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Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

Osteogenesis imperfecta (OI) is a genetic disorder of connective tissue characterized by bone fragility and alteration in synthesis and posttranslational modification of type I collagen. Autosomal dominant OI is caused by mutations in the genes (COL1A1 or COL1A2) encoding the chains of type I collag...

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Detalles Bibliográficos
Autores principales:	Kelley, Brian P, Malfait, Fransiska, Bonafe, Luisa, Baldridge, Dustin, Homan, Erica, Symoens, Sofie, Willaert, Andy, Elcioglu, Nursel, Van Maldergem, Lionel, Verellen-Dumoulin, Christine, Gillerot, Yves, Napierala, Dobrawa, Krakow, Deborah, Beighton, Peter, Superti-Furga, Andrea, De Paepe, Anne, Lee, Brendan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:	Clinical Vignette
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179293/ https://www.ncbi.nlm.nih.gov/pubmed/20839288 http://dx.doi.org/10.1002/jbmr.250

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