Enamel-renal-gingival syndrome and FAM20A mutations

• المؤلفون الرئيسيون: Piranit Nik Kantaputra, Massupa Kaewgahya, Udomrat Khemaleelakul, Prapai Dejkhamron, Suchitra Sutthimethakorn, Visith Thongboonkerd, Anak Iamaroon
• التنسيق: دورية
• منشور في: 2018
• الموضوعات: Biochemistry, Genetics and Molecular Biology; Medicine
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84890777928&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/53276

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...