Bone Abstracts

Osteogenesis Imperfecta (OI) is characterized by low bone mass, reduced bone strength and fractures. About 90% of OI cases are caused by autosomal dominant mutations in type I collagen (COL1A1 and COL1A2). Recessive OI can be caused by mutations in members of the prolyl-3-hydroxylation complex, including cartilage associated protein (CRTAP), that is important for post-translational collagen modification. The phenotypic overlap between dominant and recessive OI suggests common ...