Nosology of genetic skeletal disorders: 2023 revision
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology. The most significant change as compared to previ...
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| Autors principals: | , , , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | anglès |
| Publicat: |
2023
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| Accés en línia: | https://doi.org/10.1002/ajmg.a.63132 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63132 |
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