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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| Main Authors: | , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
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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