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J Osteoporos. 2011;2011:540178. doi: 10.4061/2011/540178. Epub 2011 Sep 6.

Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

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1
Shriners Hospital for Children and McGill University, Montreal, QC, Canada H3G 1A6.

Abstract

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-phenotype correlations in OI patients who have mutations affecting collagen type I. This paper is based on findings in a large single-centre OI population and a review of the literature.

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