Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

Abstract EN

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.