Article
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging.
European journal of medical genetics - 1 Jan 2000
Alao M J, Bonneau D, Holder-Espinasse M, Goizet C, Manouvrier-Hanu S, Mezel A, Petit F, Subtil D, Magdelaine C, Lacombe D
Abstract excerpt
Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder with complete penetrance and high intra- and interfamilial phenotypic variability. The key features in this syndrome are microphthalmia, enamel hypoplasia and syndactyly of the 4th-5th fingers. ODDD is caused by mutations in the connexin 43 gene (GJA1). We report here four patients from three families with GJA1 mutations, one of them diagnosed...
Topics
- Adult
- Amino Acid Sequence
- Child, Preschool
- Connexin 43
- Dental Enamel Hypoplasia
- Diagnostic Imaging
- Eye Abnormalities
- Female
- Fingers
- Genotype
- Humans