Recessive osteogenesis imperfecta: Clinical, radiological, and molecular findings

Abstract excerpt

Osteogenesis imperfecta (OI) or "brittle bone disease" is currently best described as a group of hereditary connective tissue disorders related to primary defects in type I procollagen, and to alterations in type I procollagen biosynthesis, both associated with osteoporosis and increased susceptibility to bone fractures. Initially, the autosomal dominant forms of OI, caused by mutations in either COL1A1 or...

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