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An unusual presentation of osteogenesis imperfecta type I

Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad spectrum of clinical and genetic variability. The genetic diversity involves, in the majority of the cases, mutations in one of the genes that encodes the type 1 collagen protein (COL1 A1 and COL1 A2), but it is not a requirement...

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Detalles Bibliográficos
Autores principales: Rebelo, Marta, Lima, Jandira, Vieira, José Diniz, Costa, José Nascimento
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658233/
https://www.ncbi.nlm.nih.gov/pubmed/23754901
http://dx.doi.org/10.2147/IMCRJ.S17929