ESPE Abstracts

Background: Osteogenesis imperfecta (OI) is a rare congenital bone disease associated with defects in type I collagen synthesis resulting increased bone fragility, low bone mass, connective tissue manifestations and short stature. The majority of the types of OI are caused by autosomal dominant mutation in COL1A1 and COL1A2 genes. Here we showed the new, novel COL1A2 gene mutation at the heterozygous state in a family with OI.C...