Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

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Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

Osteogenesis imperfecta is a genetic condition characterized by bone fragility and recurrent fractures, which in the large majority of patients are caused by defects in the production of type I collagen. Mutations in the gene encoding bone morphogenetic protein 1 (BMP1, also known as procollagen C-e...

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Bibliographic Details
Main Authors:	Valencia, M., Caparrós-Martín, Jose, Sirerol-Piquer, M., García-Verdugo, J., Martínez-Glez, V., Lapunzina, P., Temtamy, S., Aglan, M., Lund, A., Nikkels, P., Ruiz-Perez, V., Ostergaard, E.
Format:	Journal Article
Published:	John Wiley & Sons, Inc. 2014
Online Access:	http://hdl.handle.net/20.500.11937/68226

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