Article
Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.
Oral surgery, oral medicine, oral pathology and oral radiology - 1 Jan 2023
Machado Renato Assis, Júnior Hercílio Martelli, Ferreira Shirlene Barbosa Pimentel, Leão Letícia Lima, Coletta Ricardo D, Aguiar Marcos José Burle
Abstract excerpt
Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocular, and digital features, is caused by mutations in GJA1 (gap junction alpha-1) gene and inherited in an autosomal dominant pattern. However, an autosomal recessive pattern...
Topics
- Syndactyly
- Connexin 43
- Foot Deformities, Congenital
- Mutation
- Humans
- Tooth Abnormalities
- Eye Abnormalities
- Craniofacial Abnormalities