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This review focuses on the links between germ\u2010line mutations in the gene encoding Cx43 (<jats:italic>GJA1<\/jats:italic>) and the human disease termed oculodentodigital dysplasia (ODDD). This disease is clinically characterized by soft tissue fusion of the digits, abnormal craniofacial bone development, small eyes and loss of tooth enamel. However, the disease is considerably more complex and somewhat degenerative as patients often suffer from other syndromic effects that include incontinence, glaucoma, skin diseases and neuropathies that become more pronounced during aging. The challenge continues to be understanding how distinct Cx43 gene mutations cause such a diverse range of tissue phenotypes and pathophysiological changes while other Cx43\u2010rich organs are relatively unaffected. This review will provide an overview of many of these studies and distill some themes and outstanding questions that need to be addressed in the coming years.<\/jats:p>","DOI":"10.1016\/j.febslet.2013.12.022","type":"journal-article","created":{"date-parts":[[2014,1,14]],"date-time":"2014-01-14T03:25:31Z","timestamp":1389669931000},"page":"1339-1348","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":131,"title":["Syndromic and non\u2010syndromic disease\u2010linked Cx43 mutations"],"prefix":"10.1002","volume":"588","author":[{"given":"Dale 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