Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta

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-p...

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Detalles Bibliográficos
Autores principales: Ben Amor, I. Mouna, Glorieux, Francis H., Rauch, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2011
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170785/
https://www.ncbi.nlm.nih.gov/pubmed/21912751
http://dx.doi.org/10.4061/2011/540178
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author Ben Amor, I. Mouna
Glorieux, Francis H.
Rauch, Frank
author_facet Ben Amor, I. Mouna
Glorieux, Francis H.
Rauch, Frank
author_sort Ben Amor, I. Mouna
collection PubMed
description 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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spelling pubmed-31707852011-09-12 Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta Ben Amor, I. Mouna Glorieux, Francis H. Rauch, Frank J Osteoporos Review Article 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. SAGE-Hindawi Access to Research 2011 2011-09-06 /pmc/articles/PMC3170785/ /pubmed/21912751 http://dx.doi.org/10.4061/2011/540178 Text en 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.
spellingShingle Review Article
Ben Amor, I. Mouna
Glorieux, Francis H.
Rauch, Frank
Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
title Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
title_full Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
title_fullStr Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
title_full_unstemmed Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
title_short Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta
title_sort genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170785/
https://www.ncbi.nlm.nih.gov/pubmed/21912751
http://dx.doi.org/10.4061/2011/540178
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