Kabuki syndrome: international consensus diagnostic criteria

Margaret P. Adam*, Siddharth Banka, Hans T. Bjornsson, Olaf Bodamer, Albert E. Chudley, Jaqueline Harris, Hiroshi Kawame, Brendan C. Lanpher, Andrew W. Lindsley, Giuseppe Merla, Noriko Miyake, Nobuhiko Okamoto, Constanze T. Stumpel, Norio Niikawa, Kabuki Syndrome Medical Advisory Board

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)89-95
Number of pages7
JournalJournal of Medical Genetics
Volume56
Issue number2
DOIs
Publication statusPublished - Feb 2019

Keywords

  • MAKE-UP-SYNDROME
  • KMT2D
  • KDM6A
  • MUTATIONS
  • EARS

Cite this

Adam, M. P., Banka, S., Bjornsson, H. T., Bodamer, O., Chudley, A. E., Harris, J., Kawame, H., Lanpher, B. C., Lindsley, A. W., Merla, G., Miyake, N., Okamoto, N., Stumpel, C. T., Niikawa, N., & Kabuki Syndrome Medical Advisory Board (2019). Kabuki syndrome: international consensus diagnostic criteria. Journal of Medical Genetics, 56(2), 89-95. https://doi.org/10.1136/jmedgenet-2018-105625