Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: A case report

• المؤلفون الرئيسيون: Sangsin A., Kuptanon C., Srichomthong C., Pongpanich M., Suphapeetiporn K., Shotelersuk V.
• التنسيق: دورية
• منشور في: 2017
• الوصول للمادة أونلاين: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85014340978&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/40661
• المؤسسة: Chiang Mai University

© 2017 The Author(s). Background: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both...