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De novo and inherited pathogenic variants in collagen‐related osteogenesis imperfecta
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic bone fragility disorder. In the current study, differences between the genotypes and phenotypes of de novo and inherited collagen‐related OI were investigated. METHODS: A comparative analysis was performed of the genotypes and phenotypes of...
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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6418448/ https://ncbi.nlm.nih.gov/pubmed/30675999 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.559 |
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