De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Illja J. Diets, Roos van der Donk, Kristina Baltrunaite, Esme Waanders, Margot R. F. Reijnders, Alexander J. M. Dingemans, Rolph Pfundt, Anneke T. Vulto-van Silfhout, Laurens Wiel, Christian Gilissen, Julien Thevenon, Laurence Perrin, Alexandra Afenjar, Caroline Nava, Boris Keren, Sarah Bartz, Bethany Peri, Gea Beunders, Nienke Verbeek, Koen van GassenIsabelle Thiffault, Maxime Cadieux-Dion, Lina Huerta-Saenz, Matias Wagner, Vassiliki Konstantopoulou, Julia Vodopiutz, Matthias Griese, Annekatrien Boel, Bert Callewaert, Han G. Brunner, Tjitske Kleefstra, Nicoline Hoogerbrugge, Bert B. A. de Vries, Vivian Hwa, Andrew Dauber, Jayne Y. Hehir-Kwa, Roland P. Kuiper, Marjolijn C. J. Jongmans*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)758-766
Number of pages9
JournalAmerican Journal of Human Genetics
Volume104
Issue number4
DOIs
Publication statusPublished - 4 Apr 2019

Keywords

  • RUBINSTEIN-TAYBI SYNDROME
  • DEMETHYLASE KDM3B
  • MYELOID-LEUKEMIA
  • WEAVER SYNDROME
  • MUTATIONS
  • PROTEIN
  • INDIVIDUALS
  • GENETICS
  • DELETION
  • JMJD1C

Cite this

Diets, I. J., van der Donk, R., Baltrunaite, K., Waanders, E., Reijnders, M. R. F., Dingemans, A. J. M., Pfundt, R., Vulto-van Silfhout, A. T., Wiel, L., Gilissen, C., Thevenon, J., Perrin, L., Afenjar, A., Nava, C., Keren, B., Bartz, S., Peri, B., Beunders, G., Verbeek, N., ... Jongmans, M. C. J. (2019). De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. American Journal of Human Genetics, 104(4), 758-766. https://doi.org/10.1016/j.ajhg.2019.02.023