Osteogenesis imperfecta

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1930476610

Osteogenesis imperfecta

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Full title

Author / Creator

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 and Semler, Oliver

Publisher

London: Nature Publishing Group UK

Journal title

Nature reviews. Disease primers, 2017-08, Vol.3 (1), p.17052-17052

Language

English

Formats

Articles

Publication information

Publisher

London: Nature Publishing Group UK

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Scope and Contents

Contents

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...