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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.
Jacquinet, Adeline; Verloes, Alain; Callewaert, Bert et al.
2014In European Journal of Medical Genetics, 57 (5), p. 230-4

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NEONATAL PROGEROID.pdf

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