Article
The evolution of the nosology of osteogenesis imperfecta.
Clinical genetics - 1 Jan 2021
Chetty Manogari, Roomaney Imaan Amina, Beighton Peter
Abstract excerpt
Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although individually rare, the several different forms contribute to the production of a significant number of affected individuals with considerable morbidity and mortality. During the last decade, there have been extensive molecular...
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