Article
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.
Journal of medical genetics - 1 Jan 2006
Thauvin-Robinet C, 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, Bouvier A M, Huet F, Cusin V, Donzel A, Devys D, Teyssier J R, Faivre L
Abstract excerpt
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 inte...
Topics
- Adult
- Belgium
- DNA Mutational Analysis
- Female
- France
- Genetic Linkage
- Genotype
- Humans
- Mutation
- Orofaciodigital Syndromes
- Pedigree