Article
Enamel-renal-gingival syndrome and FAM20A mutations.
American journal of medical genetics. Part A - 1 Jan 2014
Kantaputra Piranit Nik, Kaewgahya Massupa, Khemaleelakul Udomrat, Dejkhamron Prapai, Sutthimethakorn Suchitra, Thongboonkerd Visith, Iamaroon Anak
Abstract excerpt
The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A. We report on two unrelated Thai patients with three novel and one previously reported mutations in FAM20A with findings suggesting both disorders, including hypoplastic AI, gingival fibromatosis, unerupted teeth,...
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