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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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Journal of Osteoporosis |
| Online Access: | http://dx.doi.org/10.4061/2011/540178 |
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| author | I. Mouna Ben Amor Francis H. Glorieux Frank Rauch |
| author_facet | I. Mouna Ben Amor Francis H. Glorieux Frank Rauch |
| author_sort | I. Mouna Ben Amor |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-b0c1faefb84d499ba048544fe865d682 |
| institution | Kabale University |
| issn | 2042-0064 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Osteoporosis |
| spelling | doaj-art-b0c1faefb84d499ba048544fe865d6822025-02-03T07:24:41ZengWileyJournal of Osteoporosis2042-00642011-01-01201110.4061/2011/540178540178Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis ImperfectaI. Mouna Ben Amor0Francis H. Glorieux1Frank Rauch2Shriners Hospital for Children and McGill University, Montreal, QC, H3G 1A6, CanadaShriners Hospital for Children and McGill University, Montreal, QC, H3G 1A6, CanadaShriners Hospital for Children and McGill University, Montreal, QC, H3G 1A6, CanadaOsteogenesis 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.http://dx.doi.org/10.4061/2011/540178 |
| spellingShingle | I. Mouna Ben Amor Francis H. Glorieux Frank Rauch Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta Journal of Osteoporosis |
| 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 |
| url | http://dx.doi.org/10.4061/2011/540178 |
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