Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

Teresa Romeo Luperchio, Carolyn D. Applegate, Olaf Bodamer, Hans Tomas Bjornsson

Research output: Contribution to journalLetterpeer-review

Original languageEnglish (US)
Article numbere1072
JournalMolecular Genetics and Genomic Medicine
Issue number2
StatePublished - Feb 1 2020

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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