Lumbar Scheuermann ’s disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report
Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by increased bone fragility and a series of extraskeletal manifestations. Approximately 90 % of OI cases are caused by t...
Source: BMC Musculoskeletal Disorders - Category: Orthopaedics Authors: Shiwei Wang, Xiaoli Wang, Xiaochun Teng, Songbai Li, Hanyi Zhang, Zhongyan Shan and Yushu Li Tags: Case report Source Type: research