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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius, Eric; Messiaen, Ludwine; Wolkenstein, Pierre; Pancza, Patrice; Avery, Robert A; Berman, Yemima; Blakeley, Jaishri; Babovic-Vuksanovic, Dusica; Cunha, Karin Soares; Ferner, Rosalie; Fisher, Michael J; Friedman, Jan M; Gutmann, David H; Kehrer-Sawatzki, Hildegard; Korf, Bruce R; Mautner, Victor-Felix; Peltonen, Sirkku; Rauen, Katherine A; Riccardi, Vincent; Schorry, Elizabeth; Stemmer-Rachamimov, Anat; Stevenson, David A; Tadini, Gianluca; Ullrich, Nicole J; Viskochil, David; Wimmer, Katharina; Yohay, Kaleb; Huson, Susan M; Evans, D Gareth; Plotkin, Scott R.
  • Legius E; Department of Human Genetics, KU Leuven and University Hospital, Leuven, Belgium. eric.legius@uzleuven.be.
  • Messiaen L; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Wolkenstein P; Assistance Publique-Hôpital Paris (AP-HP), Hôpital Henri-Mondor, UPEC, Service de Dermatologie, Créteil, France.
  • Pancza P; Children's Tumor Foundation, New York, NY, USA.
  • Avery RA; Division of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Berman Y; Clinical Genetics, Royal North Shore Hospital, St. Leonards, NSW, Australia and University of Sydney, Sydney, Australia.
  • Blakeley J; Johns Hopkins Comprehensive Neurofibromatosis Center, Baltimore, MD, USA.
  • Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic College of Medicine, Rochester, MN, USA.
  • Cunha KS; Department of Pathology, Universidade Federal Fluminense, Niteroi, Brasil.
  • Ferner R; Neurology, Guy's and St. Thomas' Hospital and NHS Trust, London, UK.
  • Fisher MJ; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Friedman JM; Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
  • Gutmann DH; Neurology, Washington University, St. Louis, MO, USA.
  • Kehrer-Sawatzki H; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Mautner VF; Neurology, University Hospital of Hamburg-Eppendorf, Hamburg, Germany.
  • Peltonen S; Dermatology, University of Turku and Turku University Hospital, Turku, Finland.
  • Rauen KA; Department of Dermatology and Venereology, University of Gothenburg, Gothenburg, Sweden.
  • Riccardi V; Pediatrics, University of California Davis, Sacramento, CA, USA.
  • Schorry E; The Neurofibromatosis Institute, La Crescenta, CA, USA.
  • Stemmer-Rachamimov A; Medical Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Stevenson DA; Neuropathology, Massachusetts General Hospital, Boston, MA, USA.
  • Tadini G; Medical Genetics, Stanford University, Stanford, CA, USA.
  • Ullrich NJ; Pediatric Dermatology, University of Milan, Milan, Italy.
  • Viskochil D; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Wimmer K; Medical Genetics, University of Utah, Salt Lake City, UT, USA.
  • Yohay K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
  • Evans DG; Clinical Genetics, (Formerly) Manchester Center for Genomic Medicine, Manchester University Hospitals, NHS Foundation Trust, Manchester, UK.
  • Plotkin SR; Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.
Genet Med ; 23(8): 1506-1513, 2021 08.
Article en En | MEDLINE | ID: mdl-34012067
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Neurofibromatosis 1 Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article