Sheila Unger, Carlos R Ferreira, Geert R Mortier, Houda Ali, Débora R Bertola, Alistair Calder, Daniel H Cohn, Valerie Cormier-Daire, Katta M Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V Reid Sutton, Matthew L Warman, Andrea Superti-Furga
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 arises from. We consider this a significant step forward as dyadic naming is more informative and less prone to errors than the traditional use of list numberings and eponyms...
February 13, 2023: American Journal of Medical Genetics. Part A