Mutations in WNT1 are a cause of osteogenesis imperfecta

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a heritable bone fragility disorder that is usually due to dominant mutations in COL1A1 or COL1A2. Rare recessive forms of OI, caused by mutations in genes involved in various aspects of bone formation, have been described as well. OBJECTIVE: To identify the cause of OI in eight children with severe bone fragility and a clinical diagnosis of OI type IV who had had...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Bone fractures and treatments
• Share to Connective tissue disorders research
• Share to Dermatological and Skeletal Disorders