Nosology of genetic skeletal disorders: 2023 revision.

Details

Ressource 1Download: American J of Med Genetics Pt A - 2023 - Unger - Nosology of genetic skeletal disorders 2023 revision.pdf (5350.22 [Ko])
State: Public
Version: Final published version
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_A5308577ECD7
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Nosology of genetic skeletal disorders: 2023 revision.
Journal
American journal of medical genetics. Part A
Author(s)
Unger S., Ferreira C.R., Mortier G.R., Ali H., Bertola D.R., Calder A., Cohn D.H., Cormier-Daire V., Girisha K.M., Hall C., Krakow D., Makitie O., Mundlos S., Nishimura G., Robertson S.P., Savarirayan R., Sillence D., Simon M., Sutton V.R., Warman M.L., Superti-Furga A.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Publication state
Published
Issued date
05/2023
Peer-reviewed
Oui
Volume
191
Number
5
Pages
1164-1209
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
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 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. Despite the adoption of dyadic naming, efforts have been made to maintain strong ties to the MIM catalog and its historical data. As with the previous versions, the list of disorders and genes in the Nosology may be useful in considering the differential diagnosis in the clinic, directing bioinformatic analysis of next-generation sequencing results, and providing a basis for novel advances in biology and medicine.
Pubmed
Web of science
Open Access
Yes
Create date
03/03/2023 16:00
Last modification date
02/05/2023 6:13
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