Etiologies of uterine malformations.

[en] Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. Specific causes remain largely unknown. Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Through the study of animal models, human syndromes, and structural chromosomal variation, several candidate genes have been proposed and subsequently tested with targeted methods in series of individuals with isolated, non-isolated, or syndromic uterine malformations. To date, a few genes have garnered strong evidence of causality, mainly in syndromic presentations (HNF1B, WNT4, WNT7A, HOXA13). Sequencing of candidate genes in series of individuals with isolated uterine abnormalities has been able to suggest an association for several genes, but confirmation of a strong causative effect is still lacking for the majority of them. We review the current state of knowledge about the developmental origins of uterine malformations, with a focus on the genetic variants that have been implicated or associated with these conditions in humans, and we discuss potential reasons for the high rate of negative results. The evidence for various environmental and epigenetic factors is also reviewed. (c) 2016 Wiley Periodicals, Inc.

Disciplines :

Genetics & genetic processes

Author, co-author :

JACQUINET, Adeline ; Centre Hospitalier Universitaire de Liège - CHU > Service de génétique

Millar, Debra

Lehman, Anna

Language :

English

Title :

Etiologies of uterine malformations.

Publication date :

2016

Journal title :

American Journal of Medical Genetics. Part A

ISSN :

1552-4825

eISSN :

1552-4833

Publisher :

Wiley-Liss Inc, United States - New Jersey

Volume :

170

Issue :

Pages :

2141-72

Peer reviewed :

Peer Reviewed verified by ORBi

Commentary :

Available on ORBi :

since 16 January 2017

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Bibliography

Acer T, Ötgün İ, Sağnak Akıllı M, Gürbüz EE, Güney LH, Hiçsönmez A. 2013. A newborn with caudal duplication and duplex imperforate anus. J Pediatr Surg 48:E37–E43.
Acién P, Acién MI. 2011. The history of female genital tract malformation classifications and proposal of an updated system. Hum Reprod Update 17:693–705.
Ahmad R, Pope S. 2008. Association of Mayer-Rokitansky-Küster-Hauser syndrome with Thrombocytopenia Absent Radii syndrome: A rare presentation. Eur J Obstet Gynecol Reprod Biol 139:257–258.
Aittomäki K, Eroila H, Kajanoja P. 2001. A population-based study of the incidence of Müllerian aplasia in Finland. Fertil Steril 76:624–625.
Al-Qattan MM, AlAbdulkareem I, Ballow M, Al Balwi M. 2013. A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that “apparent” Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS). Gene 527:371–375.
Alvelos MI, Rodrigues M, Lobo L, Medeira A, Sousa AB, Simão C, Lemos MC. 2015. A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: A case report and mutation update. Medicine (Baltimore) 94:e469.
Al-Awadi SA, Farag TI, Teebi AS, Naguib K, el-Khalifa MY, Kelani Y, Al-Ansari A, Schimke RN. 1985. Primary hypogonadism and partial alopecia in three sibs with Müllerian hypoplasia in the affected females. Am J Med Genet 22:619–622.
Angelis CD, Caserta D. 2015. Pregnancy outcome in women with uterine anomalies. In: Grimbizis GF, Campo R, Tarlatzis BC, Gordts S, editors. Female genital tract congenital malformations. London: Springer. pp 157–167.
Anguiano A, Yang X, Felix JK, Hoo JJ. 2003. Twin brothers with MIDAS syndrome and XX karyotype. Am J Med Genet Part A 119A:47–49.
Aughton DJ. 1993. Müllerian duct abnormalities and galactosaemia heterozygosity: Report of a family. Clin Dysmorphol 2:55–61.
Bakalov VK, Shawker T, Ceniceros I, Bondy CA. 2007. Uterine development in Turner syndrome. J Pediatr 151:528–531, 531.e1.
Bartsocas CS, Papas CV. 1972. Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. J Med Genet 9:222–226.
Bashyal RK, Malchau H, Nimkin K, Holmes LB. 2012. The association of a dysmorphic pelvis, absence of pubic rami, hip dysplasia, and genitourinary anomalies. Birt Defects Res A Clin Mol Teratol 94:57–60.
Baty BJ, Blackburn BL, Carey JC. 1994. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 49:175–188.
Behera M, Couchman G, Walmer D, Price TM. 2005. Mullerian agenesis and thrombocytopenia absent radius syndrome: A case report and review of syndromes associated with Mullerian agenesis. Obstet Gynecol Surv 60:453–461.
Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW. 2000. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 66:312–319.
Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE. 2011. Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol Metab 96:E404–E412.
Benson GV, Lim H, Paria BC, Satokata I, Dey SK, Maas RL. 1996. Mechanisms of reduced fertility in Hoxa-10 mutant mice: Uterine homeosis and loss of maternal Hoxa-10 expression. Dev Camb Engl 122:2687–2696.
Bernardini L, Gimelli S, Gervasini C, Carella M, Baban A, Frontino G, Barbano G, Divizia MT, Fedele L, Novelli A, Béna F, Lalatta F, Miozzo M, Dallapiccola B. 2009. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: Two case reports. Orphanet J Rare Dis 4:25.
Bernert J, Bartels I, Gatz G, Hansmann I, Heyat M, Niedmann PD, Rehder H, Waldenmaier C, Zoll B. 1992. Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS. Am J Med Genet 42:747–750.
Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH. 2015. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. Am J Med Genet Part A 167A:2497–2502.
Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ. 2007. WNT4 deficiency—A clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: A case report. Hum Reprod Oxf Engl 22:224–229.
Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ. 2004. A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. N Engl J Med 351:792–798.
Bijlsma EK, Gijsbers ACJ, Schuurs-Hoeijmakers JHM, van Haeringen A, Fransen van de Putte DE, Anderlid B-M, Lundin J, Lapunzina P, Pérez Jurado LA, Delle Chiaie B, Loeys B, Menten B, Oostra A, Verhelst H, Amor DJ, Bruno DL, van Essen AJ, Hordijk R, Sikkema-Raddatz B, Verbruggen KT, Jongmans MCJ, Pfundt R, Reeser HM, Breuning MH, Ruivenkamp CA. 2009. Extending the phenotype of recurrent rearrangements of 16p11. 2: Deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 52:77–87.
Bingham C, Ellard S, Cole TRP, Jones KE, Allen LIS, Goodship JA, Goodship THJ, Bakalinova-Pugh D, Russell GI, Woolf AS, Nicholls AJ, Hattersley AT. 2002. Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int 61:1243–1251.
Blank CE. 1960. Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases. Ann Hum Genet 24:151–164.
Block K, Kardana A, Igarashi P, Taylor HS. 2000. In utero diethylstilbestrol (DES) exposure alters Hox gene expression in the developing Müllerian system. FASEB J 14:1101–1108.
Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Lo IFM, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin G, Michaelis RC, Whiteford ML, Simola KOJ, Rösler B, Kohlhase J. 2005. SALL1 mutation analysis in Townes-Brocks syndrome: Twelve novel mutations and expansion of the phenotype. Hum Mutat 26:282.
Braun-Quentin C, Billes C, Böwing B, Kotzot D. 1996. MURCS association: Case report and review. J Med Genet 33:618–620.
Breech LL, Laufer MR. 2009. Müllerian anomalies. Obstet Gynecol Clin North Am 36:47–68.
Brice G, Mansour S, Bell R, Collin JRO, Child AH, Brady AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA. 2002. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 39:478–483.
Bromer JG, Zhou Y, Taylor MB, Doherty L, Taylor HS. 2010. Bisphenol-A exposure in utero leads to epigenetic alterations in the developmental programming of uterine estrogen response. FASEB J 24:2273–2280.
Buchta RM, Viseskul C, Gilbert EF, Sarto GE, Opitz JM. 1973. Familial bilateral renal agenesis and hereditary renal adysplasia. Z Für Kinderheilkd 115:111–129.
Burel A, Mouchel T, Odent S, Tiker F, Knebelmann B, Pellerin I, Guerrier D. 2006. Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina). J Negat Results Biomed 5:4.
Buttram VC, Gibbons WE. 1979. Müllerian anomalies: A proposed classification. (An analysis of 144 cases). Fertil Steril 32:40–46.
Campo RV, Aaberg TM. 1982. Ocular and systemic manifestations of the Bardet-Biedl syndrome. Am J Ophthalmol 94:750–756.
Carbone I, Cotellessa M, Barella C, Minetti C, Ghiggeri GM, Caridi G, Perfumo F, Lorini R. 2002. A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes. Diabetologia 45:153–154.
Carroll TJ, Park J-S, Hayashi S, Majumdar A, McMahon AP. 2005. Wnt9b plays a central role in the regulation of mesenchymal to epithelial transitions underlying organogenesis of the mammalian urogenital system. Dev Cell 9:283–292.
Carson SA, Simpson JL, Malinak LR, Elias S, Gerbie AB, Buttram VC, Sarto GE. 1983. Heritable aspects of uterine anomalies. II. Genetic analysis of Müllerian aplasia. Fertil Steril 40:86–90.
Chan YY, Jayaprakasan K, Zamora J, Thornton JG, Raine-Fenning N, Coomarasamy A. 2011. The prevalence of congenital uterine anomalies in unselected and high-risk populations: A systematic review. Hum Reprod Update 17:761–771.
Chang X, Qin Y, Xu C, Li G, Zhao X, Chen Z-J. 2012. Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women. Reprod Biomed Online 24:630–633.
Cheng Z, Zhu Y, Su D, Wang J, Cheng L, Chen B, Wei Z, Zhou P, Wang B, Ma X, Cao Y. 2011. A novel mutation of HOXA10 in a Chinese woman with a Mullerian duct anomaly. Hum Reprod Oxf Engl 26:3197–3201.
Chen M-J, Wei S-Y, Yang W-S, Wu T-T, Li H-Y, Ho H-N, Yang Y-S, Chen P-L. 2015. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome. Hum Reprod Oxf Engl 30:1732–1742.
Chen X, Li G, Qin Y, Cui Y, You L, Chen Z-J. 2014a. Mutations in HOXA11 are not responsible for Müllerian duct anomalies in Chinese patients. Reprod Biomed Online 28:739–742.
Chen X, Mu Y, Li C, Li G, Zhao H, Qin Y, Chen Z-J. 2014b. Mutation screening of HOXA7 and HOXA9 genes in Chinese women with Müllerian duct abnormalities. Reprod Biomed Online 29:595–599.
Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonça BB, Szuhai K, Otto PA. 2006. Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet Part A 140A:1339–1342.
Cheroki C, Krepischi-Santos ACV, Szuhai K, Brenner V, Kim CAE, Otto PA, Rosenberg C. 2008. Genomic imbalances associated with mullerian aplasia. J Med Genet 45:228–232.
Chiga M, Ohmori T, Ohba T, Katabuchi H, Nishinakamura R. 2014. Preformed Wolffian duct regulates Müllerian duct elongation independently of canonical Wnt signaling or Lhx1 expression. Int J Dev Biol 58:663–668.
Childs AJ, Hall L-LH. 2005. Hot clues to the etiology of Mayer-Rokitansky-Küster-Hauser syndrome? Fertil Steril 84:544–545; author reply 545.
Chitayat D, Sroka H, Keating S, Colby RS, Ryan G, Toi A, Blaser S, Viero S, Devisme L, Boute-Bénéjean O, Manouvrier-Hanu S, Mortier G, Loeys B, Rauch A, Bitoun P. 2007. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance. Am J Med Genet Part A 143A:1268–1281.
Chitayat D, Stalker HJ, Vekemans M, Delneste D, Azouz EM. 1993. Phocomelia, oligodactyly, and acrania: The Schinzel-Phocomelia syndrome. Am J Med Genet 45:297–299.
Ciotti P, Mandich P, Bellone E, Ceppa P, Bovio M, Ameri P, Torre G, Fiocca R, Murialdo G. 2011. Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post-mortem genetic analysis of tissue specimens. Am J Med Genet Part A 155A:2750–2753.
Clément-Ziza M, Khen N, Gonzales J, Crétolle-Vastel C, Picard J-Y, Tullio-Pelet A, Besmond C, Munnich A, Lyonnet S, Nihoul-Fékété C. 2005. Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly. Am J Med Genet Part A 137:98–99.
Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. 2015. HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol 11:102–112.
Coffin GS, Siris E. 1985. The Coffin-Siris syndrome. Am J Dis Child 139:12.
Coffinier C, Barra J, Babinet C, Yaniv M. 1999. Expression of the vHNF1/HNF1beta homeoprotein gene during mouse organogenesis. Mech Dev 89:211–213.
Connell M, Owen C, Segars J. 2013. Genetic syndromes and genes involved in the development of the female reproductive tract: A possible role for gene therapy. J Genet Syndr Gene Ther 4:127.
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. 2011. A copy number variation morbidity map of developmental delay. Nat Genet 43:838–846.
Costa EMF, Spritzer PM, Hohl A, Bachega TASS. 2014. Effects of endocrine disruptors in the development of the female reproductive tract. Arq Bras Endocrinol Metabol 58:153–161.
Coto-Puckett WL, Gilbert-Barness E, Steelman CK, Stuart T, Robinson HB, Shehata BM. 2010. A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature. Fetal Pediatr Pathol 29:108–119.
Cullen P, Rodgers CS, Callen DF, Connolly VM, Eyre H, Fells P, Gordon H, Winter RM, Thakker RV. 1993. Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22. Am J Med Genet 47:925–930.
Daïkha-Dahmane F, Huten Y, Morvan J, Szpiro-Tapia S, Nessmann C, Eydoux P. 1998. Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation. Am J Med Genet 80:514–517.
Dang Y, Qin Y, Tang R, Mu Y, Li G, Xia M, Chen Z-J. 2012. Variants of the WNT7A gene in Chinese patients with Müllerian duct abnormalities. Fertil Steril 97:391–394.
Demirhan O, Türkmen S, Schwabe GC, Soyupak S, Akgül E, Tastemir D, Karahan D, Mundlos S, Lehmann K. 2005. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. J Med Genet 42:314–317.
Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millán JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Héon E. 2011. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat 32:610–619.
Devriendt K, Moerman P, Van Schoubroeck D, Vandenberghe K, Fryns JP. 1997. Chromosome 22q11 deletion presenting as the Potter sequence. J Med Genet 34:423–425.
Dietrich JE, Millar DM, Quint EH. 2014. Non-obstructive Müllerian anomalies. J Pediatr Adolesc Gynecol 27:386–395.
Dikoglu E, Simsek-Kiper PO, Utine GE, Campos-Xavier B, Boduroglu K, Bonafé L, Superti-Furga A, Unger S. 2013. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. Am J Med Genet Part A 161A:3161–3165.
Dollé P, Dierich A, LeMeur M, Schimmang T, Schuhbaur B, Chambon P, Duboule D. 1993. Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs. Cell 75:431–441.
Dominguez R, Rott J, Castillo M, Pittaluga RR, Corriere JN. 1993. Caudal duplication syndrome. Am J Dis Child 147:1048–1052.
Dreisler E, Stampe Sørensen S. 2014. Müllerian duct anomalies diagnosed by saline contrast sonohysterography: Prevalence in a general population. Fertil Steril 102:525–529.
Drummond JB, Rezende CF, Peixoto FC, Carvalho JS, Reis FM, De Marco L. 2008. Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome. J Assist Reprod Genet 25:511–514.
Du H, Taylor HS. 2004. Molecular regulation of mullerian development by Hox genes. Ann N Y Acad Sci 1034:152–165.
Duru UA, Laufer MR. 2009. Discordance in Mayer-von Rokitansky-Küster-Hauser Syndrome noted in monozygotic twins. J Pediatr Adolesc Gynecol 22:e73–e75.
Dutta HK. 2014. Cloacal exstrophy: A single center experience. J Pediatr Urol 10:329–335.
Edghill EL, Bingham C, Ellard S, Hattersley AT. 2006. Mutations in hepatocyte nuclear factor-1β and their related phenotypes. J Med Genet 43:84–90.
Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C. 2008. Hepatocyte nuclear factor-1β gene deletions—A common cause of renal disease. Nephrol Dial Transplant 23:627–635.
Ekici AB, Strissel PL, Oppelt PG, Renner SP, Brucker S, Beckmann MW, Strick R. 2013. HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. Gene 518:267–272.
Elias S, Simpson JL, Carson SA, Malinak LR, Buttram VC. 1984. Genetics studies in incomplete Müllerian fusion. Obstet Gynecol 63:276–279.
Evans JA, Phillips S, Reed M, Chodirker BN. 2000. Severe acro-renal-uterine-mandibular syndrome. Am J Med Genet 93:67–73.
Exome Aggregation Consortium (ExAC), Cambridge, MA (URL:http://exac.broadinstitute.org) [06, 2015].
Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M. 2011. A novel homozygous missense mutation (c. 610G>A, p. Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet Part A 155A:599–604.
Farag TI, al-Awadi SA, Marafie MJ, Bastaki L, al-Othman SA, Mohammed FM, AlSuliman IS, Murthy DS. 1993. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: Report of a Bedouin patient and review. J Med Genet 30:62–64.
Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW. 2010. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet 47:195–203.
Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Röthlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM. 2014. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet 86:220–228.
Froster UG, Kolditz P, Wisser J, Robbiani MB, Stallmach T, Hebisch G, Huch R, Huch A. 1996. Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: A distinctive malformation syndrome. Am J Med Genet 62:48–53.
Gendron RL, Paradis H, Hsieh-Li HM, Lee DW, Potter SS, Markoff E. 1997. Abnormal uterine stromal and glandular function associated with maternal reproductive defects in Hoxa-11 null mice. Biol Reprod 56:1097–1105.
Gervasini C, Grati FR, Lalatta F, Tabano S, Gentilin B, Colapietro P, De Toffol S, Frontino G, Motta F, Maitz S, Bernardini L, Dallapiccola B, Fedele L, Larizza L, Miozzo M. 2010. SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome. Genet Med 12:634–640.
Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. 2000. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet 67:197–202.
Gorlin RJ, Sedano HO, Cervenka J. 1968. Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics 41:503–509.
Goyal D, Yadav DK, Shukla U, Sethi SK. 2010. Coffin-Siris syndrome with Mayer-Rokitansky-Küster-Hauser syndrome: a case report. J Med Case Reports 4:354.
Griesinger G, Dafopoulos K, Schultze-Mosgau A, Schroder A, Felberbaum R, Diedrich K. 2005. Mayer-Rokitansky-Küster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome. Fertil Steril 83:452–454.
Griffin JE, Edwards C, Madden JD, Harrod MJ, Wilson JD. 1976. Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome. Ann Intern Med 85:224–236.
Grimbizis GF, Campo R. 2010. Congenital malformations of the female genital tract: The need for a new classification system. Fertil Steril 94:401–407.
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li T-C, Tanos V, Brölmann H, Gianaroli L, Campo R. 2013. The ESHRE-ESGE consensus on the classification of female genital tract congenital anomalies. Gynecol Surg 10:199–212.
Guazzarotti L, Caprio C, Rinne TK, Bosoni M, Pattarino G, Mauri S, Tadini GL, van Bokhoven H, Zuccotti GV. 2008. Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation? Am J Med Genet Part A 146A:2001–2004.
Guioli S, Sekido R, Lovell-Badge R. 2007. The origin of the Mullerian duct in chick and mouse. Dev Biol 302:389–398.
Hadjantonakis A-K, Pisano E, Papaioannou VE. 2008. Tbx6 regulates left/right patterning in mouse embryos through effects on nodal cilia and perinodal signaling. PLoS ONE 3:e2511.
Halal F, Desgranges MF, Leduc B, Thêorét G, Bettez P. 1980. Acro-renal-mandibular syndrome. Am J Med Genet 5:277–284.
Halbert DR, Christakos AC. 1970. Discordance of sexual anomalies in monozygotic twins. Report of a case. Obstet Gynecol 36:388–390.
Hall-Craggs MA, Kirkham A, Creighton SM. 2013a. Renal and urological abnormalities occurring with Mullerian anomalies. J Pediatr Urol 9:27–32.
Hall-Craggs MA, Williams CE, Pattison SH, Kirkham AP, Creighton SM. 2013b. Mayer-Rokitansky-Kuster-Hauser syndrome: Diagnosis with MR imaging. Radiology 269:787–792.
Halt K, Vainio S. 2014. Coordination of kidney organogenesis by Wnt signaling. Pediatr Nephrol Berl Ger 29:737–744.
Hammoud AO, Gibson M, Peterson CM, Kerber RA, Mineau GP, Hatasaka H. 2008. Quantification of the familial contribution to Müllerian anomalies. Obstet Gynecol 111:378–384.
Hannas BR, Howdeshell KL, Furr J, Gray LE. 2013. In utero phthalate effects in the female rat: A model for MRKH syndrome. Toxicol Lett 223:315–321.
Happle R, Daniëls O, Koopman RJ. 1993. MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X-linked phenotype distinct from Goltz syndrome. Am J Med Genet 47:710–713.
Harewood L, Liu M, Keeling J, Howatson A, Whiteford M, Branney P, Evans M, Fantes J, Fitzpatrick DR. 2010. Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): Postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations. PLoS ONE 5:e12375.
Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S. 2005. The position of premature termination codons in the hepatocyte nuclear factor-1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet 118:214–224.
Hashimoto R. 2003. Development of the human Müllerian duct in the sexually undifferentiated stage. Anat Rec A Discov Mol Cell Evol Biol 272:514–519.
Hay D. 1961. Uterus unicollis and its relationship to pregnancy. J Obstet Gynaecol Br Emp 68:361–377.
Heidenreich W. 1988. Genital and extragenital abnormalities in Mayer-Rokitansky-Küster syndrome. Dtsch Med Wochenschr 113:1092–1096.
Heidenreich W, Pfeiffer A, Kumbnani HK, Scholz W, Zeuner W. 1977. Disordant monozygotic twins with Mayer Rokitansky Kütser syndrome (author's transl). Geburtshilfe Frauenheilkd 37:221–223.
Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre A-S, Faguer S, Guigonis V, Antignac C, Salomon R. 2010. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 5:1079–1090.
Herlin M, Højland AT, Petersen MB. 2014. Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature. Am J Med Genet Part A 164A:2276–2286.
Hernández AM, Villamar M, Roselló L, Moreno-Pelayo MA, Moreno F, Del Castillo I. 2007. Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations. Am J Med Genet Part A 143A:757–762.
Hiersch L, Yeoshoua E, Miremberg H, Krissi H, Aviram A, Yogev Y, Ashwal E. 2015. The association between Mullerian anomalies and short-term pregnancy outcome. J Matern Fetal Neonatal Med 19:1–22.
Huang C-C, Orvis GD, Kwan KM, Behringer RR. 2014. Lhx1 is required in Müllerian duct epithelium for uterine development. Dev Biol 389:124–136.
Huang W-W, Yin Y, Bi Q, Chiang T-C, Garner N, Vuoristo J, McLachlan JA, Ma L. 2005. Developmental diethylstilbestrol exposure alters genetic pathways of uterine cytodifferentiation. Mol Endocrinol 19:669–682.
Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Ikegawa S, Matsumoto N, Miyake N. 2014. Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. Am J Med Genet Part A 164A:2398–2402.
Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. 2004. Polyalanine expansion in HOXA13: Three new affected families and the molecular consequences in a mouse model. Hum Mol Genet 13:2841–2851.
Irving IM. 1967. Exomphalos with macroglossia: A study of eleven cases. J Pediatr Surg 2:499–507.
Iwasaki N, Okabe I, Momoi MY, Ohashi H, Ogata M, Iwamoto Y. 2001. Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt+1G>A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. Diabetologia 44:387–388.
Jessel RH, Laufer MR. 2013. Management of lower vaginal agenesis in a patient with unicornuate uterus. J Pediatr Adolesc Gynecol 26:e21–e23.
Johnson JP, Poskanzer LS, Sherman S. 1996. Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. Am J Med Genet 61:134–139.
Johnson VP, Mulder RD, Hosen R. 1976. The Wolf-Hirschhorn (4p-) syndrome. Clin Genet 10:104–112.
Jorgensen EM, Ruman JI, Doherty L, Taylor HS. 2010. A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies. Fertil Steril 94:1235–1238.
Kalaniti K, Sandhya V. 2011. Fraser syndrome in three consecutive siblings. Oman J Ophthalmol 4:87–89.
Kantaputra PN, Mundlos S, Sripathomsawat W. 2010. A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Med Genet Part A 152A:2832–2837.
Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ. 1997. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299–308.
Kinoshita M, Nakamura Y, Nakano R, Morimatsu M, Fukuda S, Nishimi Y, Hashimoto T. 1989. Thirty-one autopsy cases of trisomy 18: clinical features and pathological findings. Pediatr. Pathol Affil Int Paediatr Pathol Assoc 9:445–457.
Kobayashi A, Behringer RR. 2003. Developmental genetics of the female reproductive tract in mammals. Nat Rev Genet 4:969–980.
Kohl S, Hwang D-Y, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F. 2014. Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol 25:1917–1922.
Kohli M, Kohli M, Sharma N, Siddiqui SR, Tulsi SPS. 2010. Gorlin-Goltz syndrome. Natl J Maxillofac Surg 1:50–52.
Komura M, Kanamori Y, Sugiyama M, Tomonaga T, Suzuki K, Hashizume K, Goishi K. 2007. A female infant who had both complete VACTERL association and MURCS association: Report of a case. Surg Today 37:878–880.
Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH. 2015. Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. J Med Genet 52:104–110.
Lalatta F, Motta F, Restelli E, Bellini M, Miozzo M, Gervasini C, Dallapiccola B, Gentilin B, Fedele L. 2015. Dysmorphologic assessment in 115 Mayer-Rokitansky-Küster-Hauser patients. Clin Dysmorphol 24:95–101.
Lalwani S, Wu H, Reindollar RH, Gray MR. 2008. HOXA10 mutations in congenital absence of uterus and vagina. Fertil Steril 89:325–330.
Ledig S, Brucker S, Barresi G, Schomburg J, Rall K, Wieacker P. 2012. Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Hum Reprod Oxf Engl 27:2872–2875.
Ledig S, Schippert C, Strick R, Beckmann MW, Oppelt PG, Wieacker P. 2011. Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril 95:1589–1594.
Liatsikos SA, Grimbizis GF, Georgiou I, Papadopoulos N, Lazaros L, Bontis JN, Tarlatzis BC. 2010. HOX A10 and HOX A11 mutation scan in congenital malformations of the female genital tract. Reprod Biomed Online 21:126–132.
Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. 1999. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 8:2001–2008.
Lindsay JR, Black FO, Donnelly WH. 1975. Acrocephalosyndactly (Apert's syndrome): Temporal bone findings. Ann Otol Rhinol Laryngol 84:174–178.
Lindy AS, Bupp CP, McGee SJ, Steed E, Stevenson RE, Basehore MJ, Friez MJ. 2014. Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani-Lenz syndrome. Am J Med Genet Part A 164A:2391–2397.
Linke F, Kraemer W, Ansorge M, Brzezinska R, Berger S. 2005. Right esophageal lung in a preterm child with VACTERL association and Mayer-Rokitansky-Kuster-Hauser syndrome. Pediatr Surg Int 21:285–288.
Lischke JH, Curtis CH, Lamb EJ. 1973. Discordance of vaginal agenesis in monozygotic twins. Obstet Gynecol 41:920–924.
Liu S, Gao X, Qin Y, Liu W, Huang T, Ma J, Simpson JL, Chen Z-J. 2015. Nonsense mutation of EMX2 is potential causative for uterus didelphysis: First molecular explanation for isolated incomplete Müllerian fusion. Fertil Steril 103:769–774.
Lokmane L, Heliot C, Garcia-Villalba P, Fabre M, Cereghini S. 2010. VHNF1 functions in distinct regulatory circuits to control ureteric bud branching and early nephrogenesis. Dev Camb Engl 137:347–357.
Lopez-Porras RF, Arroyo C, Soto-Vega E. 2011. Focal dermal hypoplasia with uterus bicornis and renal ectopia: Case report and review of the literature. Case Rep Dermatol 3:158–163.
Lowry RB, Miller JR, MacLean JR. 1968. Micrognathia, polydactyly, and cleft palate. J Pediatr 72:859–861.
Lynch SA, Wang Y, Strachan T, Burn J, Lindsay S. 2000. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 37:561–566.
Ma J, Qin Y, Liu W, Duan H, Xia M, Chen Z-J. 2011. Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities. Fertil Steril 95:2615–2617.
Ma W, Li Y, Wang M, Li H, Su T, Li Y, Wang S. 2015. Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Küster-Hauser Syndrome in Chinese Han. PLoS ONE 10:e0130202.
MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. 2014. Guidelines for investigating causality of sequence variants in human disease. Nature 508:469–476.
Maillette de Buy Wenniger-Prick LJJM, Hennekam RCM. 2002. The Peters' plus syndrome: A review. Ann Génétique 45:97–103.
Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O. 2010. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. J Med Genet 47:538–548.
Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M, Drugan A, Tiosano D, Gershoni-Baruch R, Choder M, Sprecher E. 2008. SERKAL syndrome: An autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet 82:39–47.
Marcotte M, Sharma R, Bouchard M. 2014. Gene regulatory network of renal primordium development. Pediatr Nephrol Berl Ger 29:637–644.
Martin BM, Ivanova MH, Sarukhanov A, Kim A, Power P, Pugash D, Popescu O-E, Lachman RS, Krakow D, Patel MS. 2014. Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders. Am J Med Genet Part A 164A:2490–2495.
Martucciello G, Torre M, Belloni E, Lerone M, Pini Prato A, Cama A, Jasonni V. 2004. Currarino syndrome: Proposal of a diagnostic and therapeutic protocol. J Pediatr Surg 39:1305–1311.
Massé J, Watrin T, Laurent A, Deschamps S, Guerrier D, Pellerin I. 2009. The developing female genital tract: From genetics to epigenetics. Int J Dev Biol 53:411–424.
May-Simera HL, Kelley MW. 2012. Cilia, Wnt signaling, and the cytoskeleton. Cilia 1:7.
McGowan R, Tydeman G, Shapiro D, Craig T, Morrison N, Logan S, Balen AH, Ahmed SF, Deeny M, Tolmie J, Tobias ES. 2015. DNA copy number variations are important in the complex genetic architecture of Müllerian disorders. Fertil Steril 103:1021–1030.
McPherson E, Carey J, Kramer A, Hall JG, Pauli RM, Schimke RN, Tasin MH. 1987. Dominantly inherited renal adysplasia. Am J Med Genet 26:863–872.
Mégarbané A, Gannagé-Yared MH, Khalifé AA, Fabre M. 2003. Primary hypergonadotropic hypogonadism, partial alopecia, and Müllerian hypoplasia: Report of a second family with additional findings. Am J Med Genet Part A 119A:214–217.
Milsom SR, Ogilvie CM, Jefferies C, Cree L. 2015. Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins—A case report and implications for reproduction in MRKH women. Gynecol Endocrinol 31:1–4.
Mittag J, Winterhager E, Bauer K, Grümmer R. 2007. Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy. Endocrinology 148:719–725.
Miyamoto N, Yoshida M, Kuratani S, Matsuo I, Aizawa S. 1997. Defects of urogenital development in mice lacking Emx2. Dev Camb Engl 124:1653–1664.
Moerman P, Fryns JP, van der Steen K, Kleczkowska A, Lauweryns J. 1988. The pathology of trisomy 13 syndrome. A study of 12 cases. Hum Genet 80:349–356.
Moldovan O, Carvalho R, Jorge Z, Medeira A. 2011. A new case of HDR syndrome with severe female genital tract malformation: comment on “Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations” by Hernández et al. Am J Med Genet Part A 155A:2329–2330.
Morcel K, Dallapiccola B, Pasquier L, Watrin T, Bernardini L, Guerrier D. 2012a. Clinical utility gene card for: Mayer-Rokitansky-Küster-Hauser syndrome. Eur J Hum Genet 20.
Morcel K, Watrin T, Jaffre F, Deschamps S, Omilli F, Pellerin I, Levêque J, Guerrier D. 2012b. Involvement of ITIH5, a candidate gene for congenital uterovaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome), in female genital tract development. Gene Expr 15:207–214.
Morcel K, Watrin T, Pasquier L, Rochard L, Le Caignec C, Dubourg C, Loget P, Paniel B-J, Odent S, David V, Pellerin I, Bendavid C, Guerrier D. 2011. Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci. Orphanet J Rare Dis 6:9.
Moreno-De-Luca D, SGENE Consortium, Mulle JG, Simons Simplex Collection Genetics Consortium, Kaminsky EB, Sanders SJ, R GeneSTA, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, K Uhas, L Weik, L Guy, Care ME, Morel CF, C Boni, Salbert BA, A Chandrareddy, Demmer LA, C EW, U Surti, S Aradhya, Pickering DL, Golden DM, Sanger WG, E Aston, Brothman AR, Gliem TJ, Thorland EC, T Ackley, R Iyer, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH. 2010. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 87:618–630.
Mortlock DP, Innis JW. 1997. Mutation of HOXA13 in hand-foot-genital syndrome. Nat Genet 15:179–180.
Mullen RD, Behringer RR. 2014. Molecular genetics of Müllerian duct formation, regression and differentiation. Sex Dev 8:281–296.
Nacke S, Schäfer R, Habré de Angelis M, Mundlos S. 2000. Mouse mutant “rib-vertebrae” (rv): A defect in somite polarity. Dev Dyn 219:192–200.
Nakamura A, Fujiwara F, Hasegawa Y, Ishizu K, Mabe A, Nakagawa H, Nagasaki K, Jo W, Tajima T. 2011. Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. Endocr J 58:123–130.
Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Müller U. 2004. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet 74:558–563.
Nik-Zainal S, Strick R, Storer M, Huang N, Rad R, Willatt L, Fitzgerald T, Martin V, Sandford R, Carter NP, Janecke AR, Renner SP, Oppelt PG, Oppelt P, Schulze C, Brucker S, Hurles M, Beckmann MW, Strissel PL, Shaw-Smith C. 2011. High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. J Med Genet 48:197–204.
Nunes N, Karandikar S, Cooper S, Jaganathan R, Irani S. 2009. VATER/VACTERL syndrome (vertebra/anus/cardiac/trachea/esophogus/radius/renal/limb anomalies) with a noncommunicating functioning uterine horn and a unicornuate uterus: A case report. Fertil Steril 91:1957.e11–1957.e12.
Ohno K, Nakamura T, Azuma T, Nakaoka T, Takama Y, Hayashi H, Horiike M, Zenitani M, Higashio A. 2013. Familial Currarino syndrome associated with Hirschsprung disease: Two cases of a mother and daughter. J Pediatr Surg 48:233–238.
Oppelt P, Renner SP, Brucker S, Strissel PL, Strick R, Oppelt PG, Doerr HG, Schott GE, Hucke J, Wallwiener D, Beckmann MW. 2005. The VCUAM (vagina cervix uterus adnex-associated malformation) classification: A new classification for genital malformations. Fertil Steril 84:1493–1497.
Oppelt PG, Lermann J, Strick R, Dittrich R, Strissel P, Rettig I, Schulze C, Renner SP, Beckmann MW, Brucker S, Rall K, Mueller A. 2012. Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH). Reprod Biol Endocrinol 10:57.
Oram RA, Edghill EL, Blackman J, Taylor MJO, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C. 2010. Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol 203:364.e1–364.e5.
O'Riordain DS, O'Connell PR, Kirwan WO. 1991. Hereditary sacral agenesis with presacral mass and anorectal stenosis: The Currarino triad. Br J Surg 78:536–538.
Orstavik KH, Steen-Johnsen J, Foerster A, Fjeld T, Skullerud K, Lie SO. 1992. VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: A case of gonosomal mosaicism? Am J Med Genet 43:1035–1038.
Ostrovskaya TI, Lazjuk GI. 1988. Cerebral abnormalities in the Neu-Laxova syndrome. Am J Med Genet 30:747–756.
Park SM, Chatterjee VKK. 2005. Genetics of congenital hypothyroidism. J Med Genet 42:379–389.
Parker L, Mangwani J, Wakeling E, Singh D. 2011. Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome. Foot Ankle Surg 17:e28–e30.
Patterson LT, Potter SS. 2004. Atlas of Hox gene expression in the developing kidney. Dev Dyn 229:771–779.
Pavanello Rde C, Eigier A, Otto PA. 1988. Relationship between Mayer-Rokitansky-Küster (MRK) anomaly and hereditary renal adysplasia (HRA). Am J Med Genet 29:845–849.
Petrozza JC, Gray MR, Davis AJ, Reindollar RH. 1997. Congenital absence of the uterus and vagina is not commonly transmitted as a dominant genetic trait: Outcomes of surrogate pregnancies. Fertil Steril 67:387–389.
Philibert P, Biason-Lauber A, Gueorguieva I, Stuckens C, Pienkowski C, Lebon-Labich B, Paris F, Sultan C. 2011. Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome). Fertil Steril 95:2683–2686.
Philibert P, Biason-Lauber A, Rouzier R, Pienkowski C, Paris F, Konrad D, Schoenle E, Sultan C. 2008. Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and Müllerian duct abnormalities: a French collaborative study. J Clin Endocrinol Metab 93:895–900.
Piard J, Mignot B, Arbez-Gindre F, Aubert D, Morel Y, Roze V, McElreavy K, Jonveaux P, Valduga M, Van Maldergem L. 2014. Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2. Am J Med Genet Part A 164A:2618–2622.
Pillay K, Matthews LS, Wainwright HC. 2003. Facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation: Case report. Pediatr Dev Pathol 6:355–360.
Poor MA, Alberti O, Griscom NT, Driscoll SG, Holmes LB. 1983. Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. J Pediatr 103:270–272.
Quélin C, Loget P, Verloes A, Bazin A, Bessières B, Laquerrière A, Patrier S, Grigorescu R, Encha-Razavi F, Delahaye S, Jouannic J-M, Carbonne B, D'Hervé D, Aubry M-C, Macé G, Harvey T, Ville Y, Viot G, Joyé N, Odent S, Attié-Bitach T, Wolf C, Chevy F, Benlian P, Gonzales M. 2012. Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet 55:81–90.
Raines AM, Adam M, Magella B, Meyer SE, Grimes HL, Dey SK, Potter SS. 2013. Recombineering-based dissection of flanking and paralogous Hox gene functions in mouse reproductive tracts. Dev Camb Engl 140:2942–2952.
Rall K, Barresi G, Walter M, Poths S, Haebig K, Schaeferhoff K, Schoenfisch B, Riess O, Wallwiener D, Bonin M, Brucker S. 2011. A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients. Orphanet J Rare Dis 6:32.
Rall K, Eisenbeis S, Barresi G, Rückner D, Walter M, Poths S, Wallwiener D, Riess O, Bonin M, Brucker S. 2015a. Mayer-Rokitansky-Küster-Hauser syndrome discordance in monozygotic twins: matrix metalloproteinase 14, low-density lipoprotein receptor-related protein 10, extracellular matrix, and neoangiogenesis genes identified as candidate genes in a tissue-specific mosaicism. Fertil Steril 103:494–502.e3.
Rall K, Eisenbeis S, Henninger V, Henes M, Wallwiener D, Bonin M, Brucker S. 2015b. Typical and atypical associated findings in a group of 346 patients with Mayer-Rokitansky-Kuester-Hauser syndrome. J Pediatr Adolesc Gynecol 28:362–368.
Ramaglia L, Morgese F, Pighetti M, Saviano R. 2006. Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: Case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 102:217–219.
Ramos-Arroyo MA, de Miguel C, Valiente A, Moreno-Laguna S. 1994. Further delineation of pseudotrisomy 13 syndrome: A case without polydactyly. Am J Med Genet 50:177–179.
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. 1997. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54–63.
Ravel C, Bashamboo A, Bignon-Topalovic J, Siffroi J-P, McElreavey K, Darai E. 2012. Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome. Reprod Biomed Online 24:462–465.
Ravel C, Lorenço D, Dessolle L, Mandelbaum J, McElreavey K, Darai E, Siffroi JP. 2009. Mutational analysis of the WNT gene family in women with Mayer-Rokitansky-Kuster-Hauser syndrome. Fertil Steril 91:1604–1607.
Reddy J, Laufer MR. 2009. Congenital anomalies of the female reproductive tract in a patient with Goltz syndrome. J Pediatr Adolesc Gynecol 22:e71–e72.
Regenstein AC, Berkeley AS. 1991. Discordance of Müllerian agenesis in monozygotic twins. A case report. J Reprod Med 36:396–397.
Reynolds JF, Daniel A, Kelly TE, Gollin SM, Stephan MJ, Carey J, Adkins WN, Webb MJ, Char F, Jimenez JF. 1987. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): Report of 11 cases. Am J Med Genet 27:257–274.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee. 2015. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424.
Rosenfeld JA, Coppinger J, Bejjani BA, Girirajan S, Eichler EE, Shaffer LG, Ballif BC. 2010. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord 2:26–38.
Salonen R, Herva R. 1990. Hydrolethalus syndrome. J Med Genet 27:756–759.
Sandbacka M, Halttunen M, Jokimaa V, Aittomäki K, Laivuori H. 2011. Evaluation of SHOX copy number variations in patients with Müllerian aplasia. Orphanet J Rare Dis 6:53.
Sandbacka M, Laivuori H, Freitas É, Halttunen M, Jokimaa V, Morin-Papunen L, Rosenberg C, Aittomäki K. 2013. TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. Orphanet J Rare Dis 8:125.
Sanganalmatha SG, Hedne CR, Hiremath SS, Patil SB, Gaddadevaramat JB, Doddikoppad MM. 2014. Polycystic kidney disease in neonate with acrorenal mandibular syndrome. Clin Dysmorphol 23:133–137.
Sasaki A, Hayashi S, Oi R, Anami A, Hanaoka M, Miyazaki O, Matsuoka K, Sago H. 2011. A fetus diagnosed with Casamassima-Morton-Nance syndrome with de novo del(8)(p23.1). Prenat Diagn 31:407–409.
Sasaki G, Ogata T, Ishii T, Hasegawa T, Sato S, Matsuo N. 2002. Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: Implication for impaired sex development. Am J Med Genet 110:365–369.
Sawaya D, Goldstein S, Seetharamaiah R, Suson K, Nabaweesi R, Colombani P, Gearhart J. 2010. Gastrointestinal ramifications of the cloacal exstrophy complex: A 44-year experience. J Pediatr Surg 45:171–175; discussion 175–176.
Schimke RN, King CR. 1980. Hereditary urogenital adysplasia. Clin Genet 18:417–420.
Schinzel A. 1990. Phocomelia and additional anomalies in two sisters. Hum Genet 84:539–541.
Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA. 1981. The “cat eye syndrome”: Dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet 57:148–158.
Shafeghati Y, Kniepert A, Vakili G, Zenker M. 2008. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet Part A 146A:529–531.
Shah KR, Joshi A. 2006. Complete genitourinary and colonic duplication: A rare presentation in an adult patient. J Ultrasound Med 25:407–411.
Shihara N, Horikawa Y, Onishi T, Ono M, Kashimada K, Takeda J. 2004. Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes. Diabetologia 47:1128–1129.
Simpson JL. 1999. Genetics of the female reproductive ducts. Am J Med Genet 89:224–239.
Slavotinek A, Li C, Sherr EH, Chudley AE. 2006. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet Part A 140A:1909–1914.
Slavotinek AM. 2004. Fryns syndrome: A review of the phenotype and diagnostic guidelines. Am J Med Genet Part A 124A:427–433.
Slavotinek AM, Tifft CJ. 2002. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet 39:623–633.
Smith NA, Laufer MR. 2007. Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome: Management and follow-up. Fertil Steril 87:918–922.
Smith CC, Taylor HS. 2007. Xenoestrogen exposure imprints expression of genes (Hoxa10) required for normal uterine development. FASEB J 21:239–246.
Smith's recognizable patterns of human malformation: Expert consult—Online and Print, 7e. 2013, 7th edition. Philadelphia, PA: Saunders. p 1016.
Sparrow DB, McInerney-Leo A, Gucev ZS, Gardiner B, Marshall M, Leo PJ, Chapman DL, Tasic V, Shishko A, Brown MA, Duncan EL, Dunwoodie SL. 2013. Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Hum Mol Genet 22:1625–1631.
Srour M, Chitayat D, Caron V, Chassaing N, Bitoun P, Patry L, Cordier M-P, Capo-Chichi J-M, Francannet C, Calvas P, Ragge N, Dobrzeniecka S, Hamdan FF, Rouleau GA, Tremblay A, Michaud JL. 2013. Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia. Am J Hum Genet 93:765–772.
Steindl K, Alazami AM, Bhatia KP, Wuerfel JT, Petersen D, Cartolari R, Neri G, Klein C, Mongiardo B, Alkuraya FS, Schneider SA. 2010. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome. Clin Genet 78:594–597.
Steinkampf MP, Dharia SP, Dickerson RD. 2003. Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency. Fertil Steril 80:643–645.
Stoler JM, Herrin JT, Holmes LB. 1995. Genital abnormalities in females with Bardet-Biedl syndrome. Am J Med Genet 55:276–278.
Streeten BW, Karpik AG, Spitzer KH. 1983. Posterior keratoconus associated with systemic abnormalities. Arch Ophthalmol Chic Ill 101:616–622.
Sundaram UT, McDonald-McGinn DM, Huff D, Emanuel BS, Zackai EH, Driscoll DA, Bodurtha J. 2007. Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome. Am J Med Genet Part A 143A:2016–2018.
Suzuki A, Urushitani H, Sato T, Kobayashi T, Watanabe H, Ohta Y, Iguchi T. 2007. Gene expression change in the Müllerian duct of the mouse fetus exposed to diethylstilbestrol in utero. Exp Biol Med (Maywood, NJ) 232:503–514.
Tang R, Dang Y, Qin Y, Zou S, Li G, Wang Y, Chen Z-J. 2014. WNT9B in 542 Chinese women with Müllerian duct abnormalities: mutation analysis. Reprod Biomed Online 28:503–507.
Tatar A, Ocak Z, Tatar A, Yesilyurt A, Borekci B, Oztas S. 2009. Primary hypogonadism, partial alopecia, and Mullerian hypoplasia: report of a third family and review. Am J Med Genet Part A 149A:501–504.
Taylor HS. 2015. The role of EMX2 in uterine development. Fertil Steril 103:633–634.
Taylor HS, Vanden Heuvel GB, Igarashi P. 1997. A conserved Hox axis in the mouse and human female reproductive system: late establishment and persistent adult expression of the Hoxa cluster genes. Biol Reprod 57:1338–1345.
Teebi AS. 1993. Limb/pelvis/uterus-hypoplasia/aplasia syndrome. J Med Genet 30:797.
Tewes A-C, Rall KK, Römer T, Hucke J, Kapczuk K, Brucker S, Wieacker P, Ledig S. 2015. Variations in RBM8A and TBX6 are associated with disorders of the Müllerian ducts. Fertil Steril 103:1313–1318.
Thauvin-Robinet C, Laurent N, Rousseau T, Couvreur S, Cusin V, Callier P, Mugneret F, Durand C, Huet F, Sagot P, Faivre L. 2007. Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: A new case of Casamassima-Morton-Nance syndrome? Eur J Med Genet 50:85–91.
The American Fertility Society classifications of adnexal adhesions, distal tubal occlusion, tubal occlusion secondary to tubal ligation, tubal pregnancies, Müllerian anomalies and intrauterine adhesions. 1988. Fertil Steril 49:944–955.
Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez M-A, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T. 2012. TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet 91:372–378.
Thompson EM, Winter RM, Baraitser M. 1993. Kivlin syndrome and Peters'-Plus syndrome: Are they the same disorder? Clin Dysmorphol 2:301–316.
Tica OS, Tica AA, Brailoiu CG, Cernea N, Tica VI. 2013. Sirenomelia after phenobarbital and carbamazepine therapy in pregnancy. Birt Defects Res A Clin Mol Teratol 97:425–428.
Timmreck LS, Gray MR, Handelin B, Allito B, Rohlfs E, Davis AJ, Gidwani G, Reindollar RH. 2003a. Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. Am J Med Genet Part A 120A:72–76.
Timmreck LS, Pan HA, Reindollar RH, Gray MR. 2003b. WNT7A mutations in patients with Müllerian duct abnormalities. J Pediatr Adolesc Gynecol 16:217–221.
Torres M, Gómez-Pardo E, Dressler GR, Gruss P. 1995. Pax-2 controls multiple steps of urogenital development. Dev Camb Engl 121:4057–4065.
Tucker T, Giroux S, Clément V, Langlois S, Friedman JM, Rousseau F. 2013. Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns. Mol Genet Genomic Med 1:87–97.
Uetani N, Bouchard M. 2009. Plumbing in the embryo: Developmental defects of the urinary tracts. Clin Genet 75:307–317.
Uliana V, Giordano N, Caselli R, Papa FT, Ariani F, Marcocci C, Gianetti E, Martini G, Papakostas P, Rollo F, Meloni I, Mari F, Priolo M, Renieri A, Nuti R. 2008. Expanding the phenotype of 22q11 deletion syndrome: The MURCS association. Clin Dysmorphol 17:13–17.
Unger S, Böhm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Böhm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J. 2008. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet 40:287–289.
Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW. 2007. Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. Am J Med Genet Part A 143A:3161–3168.
Vaddadi S, Murthy RSV, Rahul CH, Kumar VL. 2013. A rare case of Turner's syndrome presenting with Mullerian agenesis. J Hum Reprod Sci 6:277–279.
Vainio S, Heikkilä M, Kispert A, Chin N, McMahon AP. 1999. Female development in mammals is regulated by Wnt-4 signalling. Nature 397:405–409.
van der Horst PH, Wang Y, van der Zee M, Burger CW, Blok LJ. 2012. Interaction between sex hormones and WNT/β-catenin signal transduction in endometrial physiology and disease. Mol Cell Endocrinol 358:176–184.
Van Lingen BL, Reindollar RH, Davis AJ, Gray MR. 1998. Further evidence that the WT1 gene does not have a role in the development of the derivatives of the Müllerian duct. Am J Obstet Gynecol 179:597–603.
Verp MS, Simpson JL, Elias S, Carson SA, Sarto GE, Feingold M. 1983. Heritable aspects of uterine anomalies. I. Three familial aggregates with Müllerian fusion anomalies. Fertil Steril 40:80–85.
Vivante A, Kohl S, Hwang D-Y, Dworschak GC, Hildebrandt F. 2014. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol Berl Ger 29:695–704.
Vivante A, Mark-Danieli M, Davidovits M, Harari-Steinberg O, Omer D, Gnatek Y, Cleper R, Landau D, Kovalski Y, Weissman I, Eisenstein I, Soudack M, Wolf HR, Issler N, Lotan D, Anikster Y, Dekel B. 2013. Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling. J Am Soc Nephrol 24:550–558.
Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre J-C, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset J-M, Lemaitre M-P, Ambresin A-E, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel J-L, Le Caignec C, David A, Isidor B, Cordier M-P, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen A-L, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin M-R, Pattou F, Meyre D, Walley AJ, Coin LJM, Blakemore AIF, Froguel P, Beckmann JS. 2010. A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2. Nature 463:671–675.
Wang M, Li Y, Ma W, Li H, He F, Pu D, Su T, Wang S. 2014. Analysis of WNT9B mutations in Chinese women with Mayer-Rokitansky-Küster-Hauser syndrome. Reprod Biomed Online 28:80–85.
Wang P, Zhao H, Sun M, Li Y, Chen Z-J. 2012. PAX2 in 192 Chinese women with Müllerian duct abnormalities: Mmutation analysis. Reprod Biomed Online 25:219–222.
Warot X, Fromental-Ramain C, Fraulob V, Chambon P, Dollé P. 1997. Gene dosage-dependent effects of the Hoxa-13 and Hoxd-13 mutations on morphogenesis of the terminal parts of the digestive and urogenital tracts. Dev Camb Engl 124:4781–4791.
Waschk DEJ, Tewes A-C, Römer T, Hucke J, Kapczuk K, Schippert C, Hillemanns P, Wieacker P, Ledig S. 2015. Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome. Clin Genet 89:590–596.
Weng EY, Moeschler JB, Graham JM. 1995. Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome. Am J Med Genet 56:366–373.
White PH, Farkas DR, McFadden EE, Chapman DL. 2003. Defective somite patterning in mouse embryos with reduced levels of Tbx6. Dev Camb Engl 130:1681–1690.
Witters I, Meylaerts L, Peeters H, Coumans A, Wirjosoekarto S, Fryns J-P. 2012. Fetal hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: A case report. Genet Couns Geneva Switz 23:513–517.
Wonkam A, Veigne SW, Abass A, Ngo Um S, Noubiap JJN, Mbanya J-C, Sobngwi E. 2015. Features of Turner syndrome among a group of Cameroonian patients. Int J Gynaecol Obstet 129:264–266.
Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. 2006. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet 79:402–408.
Wottgen M, Brucker S, Renner SP, Strissel PL, Strick R, Kellermann A, Wallwiener D, Beckmann MW, Oppelt P. 2008. Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Küster-Hauser-syndrome patients. Hum Reprod Oxf Engl 23:1226–1231.
Wu K, Chang X, Wei D, Xu C, Qin Y, Chen Z-J. 2013. Lack of association of WNT5A mutations with Müllerian duct abnormalities. Reprod Biomed Online 26:164–167.
Wulfsberg EA, Grigbsy TM. 1990. Rokitansky sequence in association with the facio-auriculo-vertebral sequence: Part of a mesodermal malformation spectrum? Am J Med Genet 37:100–102.
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F. 2015. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med 372:341–350.
Xia M, Zhao H, Qin Y, Mu Y, Wang J, Bian Y, Ma J, Chen Z-J. 2012. LHX1 mutation screening in 96 patients with Müllerian duct abnormalities. Fertil Steril 97:682–685.
Yalcinkaya C, Erturk O, Tuysuz B, Yesil G, Verbeke JIML, Keyser B, Stuhrmann M, Steinemann D, Sistermans EA, van der Knaap MS. 2012. A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: Coincidence or a new entity? Neuropediatrics 43:159–161.
Yamashita S. 2006. Expression of estrogen-regulated genes during development in the mouse uterus exposed to diethylstilbestrol neonatally. Curr Pharm Des 12:1505–1520.
Yun K, Ajima R, Sharma N, Costantini F, Mackem S, Lewandoski M, Yamaguchi TP, Perantoni AO. 2014. Non-canonical Wnt5a/Ror2 signaling regulates kidney morphogenesis by controlling intermediate mesoderm extension. Hum Mol Genet 23:6807–6814.
Zenteno JC, Carranza-Lira S, Kofman-Alfaro S. 2004. Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome. Arch Gynecol Obstet 269:270–273.