Article
Osteogenesis imperfecta.
Lancet (London, England) - 16 Apr 2016
Forlino Antonella, Marini Joan C
Abstract excerpt
Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type I collagen, but in the past 10 years discoveries of novel (mainly recessive) causative genes have lent...
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