Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

Osteogenesis imperfecta, discussed in Baldridge et al. 2008 is an inherited bone fragility disorder with a wide range of clinical severity that in the majority of cases is caused by mutations in COL1A1 or COL1A2, the genes that encode the two collagen type I alpha chains. Here we describe genotype-p...

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Detalles Bibliográficos
Autores principales: Ben Amor, I. Mouna, Glorieux, Francis H., Rauch, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2011
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170785/
https://www.ncbi.nlm.nih.gov/pubmed/21912751
http://dx.doi.org/10.4061/2011/540178

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