Short stature, platyspondyly, hip dysplasia, and retinal detachment: An atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: A case report

• المؤلفون الرئيسيون: Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
• 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=85003481046&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/55119
• المؤسسة: Chiang Mai University

© 2016 The Author(s). Background: Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. We aimed to characterize the clinical, radiological, an...