Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Thauvin‐Robinet, Christel; Cossée, M; Cormier-Daire, V; Van Maldergem, L; Toutain, A; Alembik, Y; Bieth, E; Layet, V; Parent, P; David, A; Goldenberg, A; Mortier, G; Héron, D; Sagot, P; M Bouvier, A; Huet, F; Cusin, V; Donzel, A; Devys, D; R Teyssier, J; Faivre, L

doi:10.1136/jmg.2004.027672

Public

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Published in Journal of Medical Genetics • Jan 1, 2006

Authors:

Christel Thauvin‐Robinet

M Cossée

V Cormier-Daire

Abstract

Oral-facial-digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, and central nervous system malformations. Large interfa...

Subject

Genetics

Missense mutation

Exon

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