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Inter‐ and Intrafamilial Phenotypic Variability in Individuals with Collagen‐Related Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a “brittle bone disease.” Around 90% of patients with OI harbor loss‐of‐function or dominant negative pathogenic variants in the COL1A1 and COL1A2 genes, which code for collagen type I α1 and α2 chains. Collagen‐related forms of t...
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| Publicado no: | Clin Transl Sci |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7485955/ https://ncbi.nlm.nih.gov/pubmed/32166892 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cts.12783 |
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