Article
Osteogenesis imperfecta.
Nature reviews. Disease primers - 18 Aug 2017
Marini Joan C, Forlino Antonella, Bächinger Hans Peter, Bishop Nick J, Byers Peter H, Paepe Anne De, Fassier Francois, Fratzl-Zelman Nadja, Kozloff Kenneth M, Krakow Deborah, Montpetit Kathleen, Semler Oliver
Abstract excerpt
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal...
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