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Nosology of genetic skeletal disorders: 2023 revision.
Unger, Sheila; Ferreira, Carlos R; Mortier, Geert R; Ali, Houda; Bertola, Débora R; Calder, Alistair; Cohn, Daniel H; Cormier-Daire, Valerie; Girisha, Katta M; Hall, Christine; Krakow, Deborah; Makitie, Outi; Mundlos, Stefan; Nishimura, Gen; Robertson, Stephen P; Savarirayan, Ravi; Sillence, David; Simon, Marleen; Sutton, V Reid; Warman, Matthew L; Superti-Furga, Andrea.
Afiliación
  • Unger S; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Ferreira CR; Skeletal Genomics Unit, Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
  • Mortier GR; Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium.
  • Ali H; INSERM, US14-Orphanet, Paris, France.
  • Bertola DR; Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
  • Calder A; Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
  • Cohn DH; Radiology Department, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
  • Cormier-Daire V; Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, California, USA.
  • Girisha KM; Department of Orthopaedic Surgery, University of California, Los Angeles, Los Angeles, California, USA.
  • Hall C; Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
  • Krakow D; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Makitie O; Emerita Consultant Paediatric Radiologist at Great Ormond Street Childrens' Hospital, London, UK.
  • Mundlos S; Departments of Obstetrics and Gynecology, Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
  • Nishimura G; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Robertson SP; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Savarirayan R; Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
  • Sillence D; Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
  • Simon M; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Sutton VR; Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia.
  • Warman ML; Specialities of Genomic Medicine and Paediatrics and Adolescent Health, Sydney University Clinical School, Children's Hospital, Westmead, NSW, Australia.
  • Superti-Furga A; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Am J Med Genet A ; 191(5): 1164-1209, 2023 May.
Article en En | MEDLINE | ID: mdl-36779427
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Suiza