Article
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.
Molecular biology of the cell - 15 Jul 2016
Kelly John J, Esseltine Jessica L, Shao Qing, Jabs Ethylin Wang, Sampson Jacinda, Auranen Mari, Bai Donglin, Laird Dale W
Abstract excerpt
Oculodentodigital dysplasia (ODDD) is a rare genetic disease that affects the development of multiple organs in the human body. More than 70 mutations in the gap junction connexin43 (Cx43) gene, GJA1, are associated with ODDD, most of which are inherited in an autosomal dominant manner. Many patients exhibit similar clinical presentations. However, there is high intrafamilial and interfamilial phenotypic...
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