Nosology of genetic skeletal disorders: 2023 revision

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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Opis bibliograficzny
Główni autorzy:	Sheila Unger, Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder, Daniel H. Cohn, Valérie Cormier‐Daire, Katta M. Girisha, Christine M Hall, Deborah Krakow, Outi Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga
Format:	Artigo
Język:	angielski
Wydane:	2023
Dostęp online:	https://doi.org/10.1002/ajmg.a.63132 https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63132
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