Nosology of genetic skeletal disorders: 2023 revision

Author:

Unger Sheila1,Ferreira Carlos R.2,Mortier Geert R.3,Ali Houda4,Bertola Débora R.56ORCID,Calder Alistair7,Cohn Daniel H.89ORCID,Cormier‐Daire Valerie10,Girisha Katta M.11ORCID,Hall Christine12,Krakow Deborah13ORCID,Makitie Outi1415ORCID,Mundlos Stefan16,Nishimura Gen17,Robertson Stephen P.18ORCID,Savarirayan Ravi19,Sillence David20,Simon Marleen21,Sutton V. Reid22,Warman Matthew L.2324,Superti‐Furga Andrea1ORCID

Affiliation:

1. Division of Genetic Medicine Lausanne University Hospital and University of Lausanne Lausanne Switzerland

2. Skeletal Genomics Unit, Metabolic Medicine Branch National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA

3. Center for Human Genetics University Hospital Leuven and KU Leuven Leuven Belgium

4. INSERM, US14‐Orphanet Paris France

5. Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina Universidade de São Paulo São Paulo Brazil

6. Departamento de Genética e Biologia Evolutiva, Instituto de Biociências Universidade de São Paulo São Paulo Brazil

7. Radiology Department Great Ormond Street Hospital for Children, NHS Foundation Trust London UK

8. Department of Molecular, Cell and Developmental Biology University of California, Los Angeles Los Angeles California USA

9. Department of Orthopaedic Surgery University of California, Los Angeles Los Angeles California USA

10. Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute Necker Enfants Malades Hospital (AP‐HP) Paris France

11. Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education Manipal Karnataka India

12. Emerita Consultant Paediatric Radiologist at Great Ormond Street Childrens' Hospital London UK

13. Departments of Obstetrics and Gynecology, Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine University of California, Los Angeles Los Angeles California USA

14. Children's Hospital University of Helsinki and Helsinki University Hospital Helsinki Finland

15. Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden

16. Institut für medizinische Genetik und Humangenetik Charité ‐ Universitätsmedizin Berlin Berlin Germany

17. Department of Radiology Musashino‐Yowakai Hospital Tokyo Japan

18. Department of Women's and Children's Health, Dunedin School of Medicine University of Otago Dunedin New Zealand

19. Murdoch Children's Research Institute and University of Melbourne Parkville Victoria Australia

20. Specialities of Genomic Medicine and Paediatrics and Adolescent Health Sydney University Clinical School, Children's Hospital Westmead NSW Australia

21. Department of Genetics University Medical Center Utrecht Utrecht The Netherlands

22. Department of Molecular & Human Genetics Baylor College of Medicine & Texas Children's Hospital Houston Texas USA

23. Department of Orthopedic Surgery, Boston Children's Hospital Harvard Medical School Boston Massachusetts USA

24. Department of Genetics Harvard Medical School Boston Massachusetts USA

Abstract

AbstractThe “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.

Funder

Université de Lausanne

Wellcome Trust

The Wellcome Trust DBT India Alliance

Sigrid Juséliuksen Säätiö

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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