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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Bibliographic Details
Main Authors: I. Mouna Ben Amor, Francis H. Glorieux, Frank Rauch
Format: Article
Language:English
Published: Wiley 2011-01-01
Series:Journal of Osteoporosis
Online Access:http://dx.doi.org/10.4061/2011/540178
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