Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis ImperfectaReport as inadecuate




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Journal of OsteoporosisVolume 2011 2011, Article ID 540178, 9 pages

Review ArticleShriners Hospital for Children and McGill University, Montreal, QC, Canada H3G 1A6

Received 5 April 2011; Accepted 4 July 2011

Academic Editor: Manuel Diaz Curiel

Copyright © 2011 I. Mouna Ben Amor et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.





Author: I. Mouna Ben Amor, Francis H. Glorieux, and Frank Rauch

Source: https://www.hindawi.com/



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