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Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a rare heritable skeletal disorder which is mainly caused by defected type I collagen. Autosomal recessive OI (AR-OI) is caused by mutations of genes that are responsible for type I collagen modification and folding, and is often associated with more severe phenotypes...
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| Wydane w: | Front Genet |
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| Główni autorzy: | , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Frontiers Media S.A.
2020
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7523636/ https://ncbi.nlm.nih.gov/pubmed/33093841 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00984 |
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