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Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Lamers, Ideke J C; Reijnders, Margot R F; Venselaar, Hanka; Kraus, Alison; Jansen, Sandra; de Vries, Bert B A; Houge, Gunnar; Gradek, Gyri Aasland; Seo, Jieun; Choi, Murim; Chae, Jong-Hee; van der Burgt, Ineke; Pfundt, Rolph; Letteboer, Stef J F; van Beersum, Sylvia E C; Dusseljee, Simone; Brunner, Han G; Doherty, Dan; Kleefstra, Tjitske; Roepman, Ronald.
Afiliación
  • Lamers IJC; Department of Human Genetics, and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • Reijnders MRF; Department of Human Genetics, and Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands. Electronic address: margot.reijnders@radboudumc.nl.
  • Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • Kraus A; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, LS7 4SA, UK.
  • Jansen S; Department of Human Genetics, and Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • de Vries BBA; Department of Human Genetics, and Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • Houge G; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, N-5021, Norway.
  • Gradek GA; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, N-5021, Norway.
  • Seo J; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Choi M; Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
  • van der Burgt I; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • Letteboer SJF; Department of Human Genetics, and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • van Beersum SEC; Department of Human Genetics, and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • Dusseljee S; Department of Human Genetics, and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • Brunner HG; Department of Human Genetics, and Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht
  • Doherty D; Department of Pediatrics, University of Washington and Seattle Children's Research Institute, Seattle, WA 98195, USA.
  • Kleefstra T; Department of Human Genetics, and Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands.
  • Roepman R; Department of Human Genetics, and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500 HB, the Netherlands. Electronic address: ronald.roepman@radboudumc.nl.
Am J Hum Genet ; 101(5): 824-832, 2017 Nov 02.
Article en En | MEDLINE | ID: mdl-29106825
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Nervio Óptico / Proteínas de Unión al GTP rab / Epilepsia / Discapacidad Intelectual / Hipotonía Muscular / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Nervio Óptico / Proteínas de Unión al GTP rab / Epilepsia / Discapacidad Intelectual / Hipotonía Muscular / Mutación Tipo de estudio: Prognostic_studies Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos