Enamel-renal-gingival syndrome and FAM20A mutations

• المؤلفون الرئيسيون: Kantaputra P.N., Kaewgahya M., Khemaleelakul U., Dejkhamron P., Sutthimethakorn S., Thongboonkerd V., Iamaroon A.
• التنسيق: مقال
• اللغة: English
• منشور في: 2014
• الوصول للمادة أونلاين: http://www.scopus.com/inward/record.url?eid=2-s2.0-84890777928&partnerID=40&md5=e8139c34265876b8f44ee206fd39469d; http://cmuir.cmu.ac.th/handle/6653943832/4265
• المؤسسة: Chiang Mai University

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...