Enamel-renal-gingival syndrome and FAM20A mutations

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...

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Main Authors: Piranit Nik Kantaputra, Massupa Kaewgahya, Udomrat Khemaleelakul, Prapai Dejkhamron, Suchitra Sutthimethakorn, Visith Thongboonkerd, Anak Iamaroon
Format: Journal
Published: 2018
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84890777928&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/45630
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Institution: Chiang Mai University