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: Tags: Case report Source Type: research