MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome

Aimee D. C. Paulussen*, Alexander P. A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric E. J. G. L. Smeets, Annemieke M. A. Wagemans, Jaap J. P. Schrander, Marie Jose H. van den Boogaard, Jasper J. van der Smagt, Arie van Haeringen, Irene Stolte-Dijkstra, Wilhelmina S. Kerstjens-Frederikse, Grazia M. S. Mancini, Marja W. Wessels, Raoul C. M. Hennekam, Maaike Vreeburg, Joep Geraedts, Thomy de RavelJean-Pierre Fryns, Hubert J T Smeets, Koenraad Devriendt, Constance T. R. M. Schrander-Stumpel

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

88 Citations (Web of Science)
Original languageEnglish
Pages (from-to)E2018-E2025
JournalHuman Mutation
Volume32
Issue number2
DOIs
Publication statusPublished - Feb 2011

Keywords

  • Kabuki syndrome
  • KS
  • MLL2
  • histone methyl transferase

Cite this