Article
FAM20A mutations can cause enamel-renal syndrome (ERS).
PLoS genetics - 1 Jan 2013
Wang Shih-Kai, Aref Parissa, Hu Yuanyuan, Milkovich Rachel N, Simmer James P, El-Khateeb Mohammad, Daggag Hinda, Baqain Zaid H, Hu Jan C-C
Abstract excerpt
Enamel-renal syndrome (ERS) is an autosomal recessive disorder characterized by severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, and nephrocalcinosis. Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS), which closely resembles ERS except for the renal calcifications. We characterized three families...
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