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 Roepman*DDD Study

*Corresponding author for this work

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

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