Nosology of genetic skeletal disorders: 2023 revision

Unger, Sheila; R. Ferreira, Carlos; Mortier, Geert; Ali, Houda; Romeo Bertola, Débora; Calder, Alistair; H. Cohn, Daniel; Cormier‐Daire, Valérie; M. Girisha, Katta; M Hall, Christine; Krakow, Deborah; Mäkitie, Outi; Mundlos, Stefan; Nishimura, Gen; P. Robertson, Stephen; Savarirayan, Ravi; Sillence, David; Simon, Marleen; Reid Sutton, V.; L. Warman, Matthew; Superti‐Furga, Andrea

doi:10.1002/ajmg.a.63132

Public

Nosology of genetic skeletal disorders: 2023 revision

Published in American Journal of Medical Genetics Part A • Feb 13, 2023

Authors:

Sheila Unger

Carlos R. Ferreira

Geert Mortier

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 previous versi...

Subject

Nosology

Computational biology

Genetics

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