Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

• المؤلفون الرئيسيون: Kausar, Mehran, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Makitie, Outi, Asif Mir, Khor, Chiea Chuen, Foo, Jia Nee, Anees, Mariam
• مؤلفون آخرون: Lee Kong Chian School of Medicine (LKCMedicine)
• التنسيق: مقال
• اللغة: English
• منشور في: 2019
• الموضوعات: Whole-exome Sequencing; DRNTU::Science::Medicine; WNT Signaling
• الوصول للمادة أونلاين: https://hdl.handle.net/10356/89874; http://hdl.handle.net/10220/47878
• المؤسسة: Nanyang Technological University

Introduction: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types of OI have been identified. Mutations in WNT1 compromise...