Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype

Ideke J. C. Lamers, Margot R. F. Reijnders, Hanka Venselaar, Alison Kraus, Sandra Jansen, Bert B. A. de Vries, Gunnar Houge, Gyri Aasland Gradek, Jieun Seo, Murim Choi, Jong-Hee Chae, Ineke van der Burgt, Rolph Pfundt, Stef J. F. Letteboer, Sylvia E. C. van Beersum, Simone Dusseljee, Han G. Brunner, Dan Doherty, Tjitske Kleefstra, Ronald RoepmanDDD Study

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)824-832
Number of pages9
JournalAmerican Journal of Human Genetics
Volume101
Issue number5
DOIs
Publication statusPublished - 2 Nov 2017

Keywords

  • T-CELL LYMPHOMA
  • RECYCLING ENDOSOME
  • STRUCTURAL BASIS
  • IMAGE-ANALYSIS
  • PROTEIN
  • GTPASES
  • MEMBRANE
  • RHOA
  • CILIOGENESIS
  • SPECIFICITY

Cite this

Lamers, I. J. C., Reijnders, M. R. F., Venselaar, H., Kraus, A., Jansen, S., de Vries, B. B. A., Houge, G., Gradek, G. A., Seo, J., Choi, M., Chae, J-H., van der Burgt, I., Pfundt, R., Letteboer, S. J. F., van Beersum, S. E. C., Dusseljee, S., Brunner, H. G., Doherty, D., Kleefstra, T., ... DDD Study (2017). Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype. American Journal of Human Genetics, 101(5), 824-832. https://doi.org/10.1016/j.ajhg.2017.09.015