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Nosology of genetic skeletal disorders: 2023 revision

13 Feb 2023

Abstract excerpt

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 previous versions is the adoption of the dyadic naming system, systematically associating a phenotypic entity with the gene it...

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PMID: 36779427
DOI: 10.1002/ajmg.a.63132

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