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Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. 2011

I Mouna Ben Amor, and Francis H Glorieux, and Frank Rauch
Shriners Hospital for Children and McGill University, Montreal, QC, Canada H3G 1A6.

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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