Article
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
European journal of medical genetics - 1 Jan 2000
Debeer Ph, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns J-P
Abstract excerpt
Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder characterized by developmental anomalies of the face, the eyes, the limbs and the teeth. Patients with ODDD usually present with complete syndactyly of the fourth and fifth fingers (type III syndactyly), ocular changes, abnormalities of primary and permanent dentition and specific craniofacial malformations. Mutations in GJA1, a gene that...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.