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Osteogenesis Imperfecta: An Update on Clinical Features and Therapies
Osteogenesis imperfecta (OI) is an inherited skeletal dysplasia characterized by bone fragility and skeletal deformities. While the majority of cases are associated with pathogenic variants in COL1A1 and COL1A2, the genes encoding type I collagen, up to 25% of cases are associated with other genes t...
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| Publicado no: | Eur J Endocrinol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7694877/ https://ncbi.nlm.nih.gov/pubmed/32621590 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-20-0299 |
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