Periodontal disease and FAM20A mutations

• Main Authors: Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R. Ketudat Cairns, Yeliz Guven, Nipon Chaisrisookumporn
• 格式: 雜誌
• 出版: 2018
• 主題: Agricultural and Biological Sciences
• 在線閱讀: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85018909227&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/46379
• 機構: Chiang Mai University

© 2017 The Japan Society of Human Genetics All rights reserved. Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromato...