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 is also reported. Here we described 2 families with members affected by ODDD. In the first family, the c.752G>C...
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