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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Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Wiley Subscription Services, Inc., A Wiley Company 2011
Soggetti:
Clinical Vignette
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3179293/
https://ncbi.nlm.nih.gov/pubmed/20839288
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.250
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