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Genetic evaluation of suspected osteogenesis imperfecta (OI)

Osteogenesis imperfecta (OI) is probably the most common genetic form of fracture predisposition. The term OI encompasses a broad range of clinical presentations that may be first apparent from early in pregnancies to late in life, reflecting the extent of bone deformity and fracture predisposition...

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Detalles Bibliográficos
Autores principales:	Byers, Peter H., Krakow, Deborah, Nunes, Mark E., Pepin, Melanie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2006
Materias:	ACMG Practice Guideline
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110960/ https://www.ncbi.nlm.nih.gov/pubmed/16778601 http://dx.doi.org/10.1097/01.gim.0000223557.54670.aa

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