Nosology and classification of genetic skeletal disorders: 2019 revision
University of Antwerp · Antwerp University Hospital · +20 more institutions
Abstract
The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also resulted in the delineation of new clinical entities and the identification of genes and pathways that had not previously been associated with skeletal disorders. These rapid advances have prompted the Nosology Committee of the International Skeletal Dysplasia Society to revise and update the last (2015) version of the Nosology and Classification of Genetic Skeletal Disorders. This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical,…
Citation impact
- FWCI
- 67.83
- Percentile
- 100%
- References
- 27
Authors
14- GMGeert MortierCorresponding
University of Antwerp, Antwerp University Hospital
- DHDaniel H. Cohn
University of California, Los Angeles
- VCValérie Cormier‐Daire
Hôpital Necker-Enfants Malades
- CMChristine M Hall
Great Ormond Street Hospital, University College London
- DKDeborah Krakow
University of California, Los Angeles
Topics & keywords
- Nosology
- Identification (biology)
- Medical diagnosis
- Bioinformatics
- Medicine
- Biology
- Computational biology
- Psychiatry
- Partnerships for the goals