title: Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.
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.
authors.affiliation: Shriners Hospital for Children and McGill University, Montreal, QC, Canada H3G 1A6.
authors.forename: I Mouna
authors.initials: IM
authors.lastname: Ben Amor
authors.forename: Francis H
authors.initials: FH
authors.lastname: Glorieux
authors.forename: Frank
authors.initials: F
authors.lastname: Rauch