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Phenotypes
Original article
Kabuki syndrome: international consensus diagnostic criteria

Authors

  • Margaret P Adam Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA PubMed articlesGoogle scholar articles
  • Siddharth Banka Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Hans T Bjornsson McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA Faculty of Medicine, University of Iceland, Reykjavik, Iceland Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland PubMed articlesGoogle scholar articles
  • Olaf Bodamer Division of Genetics and Genomics, Department of Medicine, Boston Children’s Hospital/Harvard Medical School, Boston, Massachusetts, USA Division of Genetics and Genomics, Broad Institute of MIT and Harvard University, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Albert E Chudley Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada PubMed articlesGoogle scholar articles
  • Jaqueline Harris Departments of Neurology and Pediatrics, Kennedy Krieger Institute, Baltimore, Maryland, USA PubMed articlesGoogle scholar articles
  • Hiroshi Kawame Department of Education and Training, Tohoku University School of Medicine, Sendai, Japan PubMed articlesGoogle scholar articles
  • Brendan C Lanpher Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  • Andrew W Lindsley Division of Allergy and Immunology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA PubMed articlesGoogle scholar articles
  • Giuseppe Merla Division of Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy PubMed articlesGoogle scholar articles
  • Noriko Miyake Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan PubMed articlesGoogle scholar articles
  • Nobuhiko Okamoto Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Izumi, Japan PubMed articlesGoogle scholar articles
  • Constanze T Stumpel Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Norio Niikawa President, the Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Hokkaido, Japan PubMed articlesGoogle scholar articles
  • the Kabuki Syndrome Medical Advisory Board
    Google scholar articles
  1. Correspondence to Dr Margaret P Adam, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA 98105, USA; margaret.adam{at}seattlechildrens.org
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Citation

Adam MP, Banka S, Bjornsson HT the Kabuki Syndrome Medical Advisory Board, et al
Kabuki syndrome: international consensus diagnostic criteria
Journal of Medical Genetics 2019;56:89-95.

Publication history

  • Received July 30, 2018
  • Revised November 9, 2018
  • Accepted November 15, 2018
  • First published December 4, 2018.
Online issue publication 
January 22, 2019

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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.