Article
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Human mutation - 1 May 2009
Paznekas William A, Karczeski Barbara, Vermeer Sascha, Lowry R Brian, Delatycki Martin, Laurence Faivre, Koivisto Pasi A, Van Maldergem Lionel, Boyadjiev Simeon A, Bodurtha Joann N, Jabs Ethylin Wang
Abstract excerpt
The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability. Abnormalities observed in ODDD affect the eye, dentition, and digits of the hands and feet. Patients present with a characteristic facial appearance, narrow nose, and hypoplastic alae nasi. Neurological problems, including dysarthria, neurogenic bladder...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Connexin 43
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymorphism, Genetic