Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta. (14th July 2011)

• Record Type: Journal Article
• Authors: Ben Amor, I. Mouna; Glorieux, Francis H.; Rauch, Frank
• Other Names: Diaz Curiel Manuel Academic Editor.
• Is Part Of: Journal of osteoporosis. Volume 2011(2011)
• Publication Date: 2011-07-14
• Subjects: Osteoporosis -- Periodicals; Osteoporosis; Orthopedic Procedures; Osteoporosis; Periodicals; Periodicals; Fulltext; Internet Resources; Periodicals; 616.716
• DOI: 10.4061/2011/540178
• Languages: English
• ISSNs: 2090-8059

Abstract

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.