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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.
Ravindran, Ethiraj; Hu, Hao; Yuzwa, Scott A; Hernandez-Miranda, Luis R; Kraemer, Nadine; Ninnemann, Olaf; Musante, Luciana; Boltshauser, Eugen; Schindler, Detlev; Hübner, Angela; Reinecker, Hans-Christian; Ropers, Hans-Hilger; Birchmeier, Carmen; Miller, Freda D; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M.
Affiliation
  • Ravindran E; Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Berlin, Germany.
  • Hu H; Department of Pediatric Neurology, Charité University Medicine Berlin, Berlin, Germany.
  • Yuzwa SA; Sozialpädiatrisches Zentrum (SPZ), Center for Chronic Sick Children, Charité University, Berlin, Germany.
  • Hernandez-Miranda LR; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Kraemer N; Guangzhou Women and Children's Medical Center, Guangzhou, China.
  • Ninnemann O; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
  • Musante L; Program in Neurosciences & Mental Health, Hospital for Sick Children, Toronto, Canada.
  • Boltshauser E; Max-Delbrück-Center for Molecular Medicine, Berlin, Germany.
  • Schindler D; Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Berlin, Germany.
  • Hübner A; Department of Pediatric Neurology, Charité University Medicine Berlin, Berlin, Germany.
  • Reinecker HC; Sozialpädiatrisches Zentrum (SPZ), Center for Chronic Sick Children, Charité University, Berlin, Germany.
  • Ropers HH; Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Berlin, Germany.
  • Birchmeier C; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Miller FD; Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland.
  • Wienker TF; Department of Human Genetics, University of Würzburg, Würzburg, Germany.
  • Hübner C; Pediatrics, University Hospital, Technical University Dresden, Dresden, Germany.
  • Kaindl AM; Gastrointestinal Unit and Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.
PLoS Genet ; 13(4): e1006746, 2017 04.
Article in En | MEDLINE | ID: mdl-28453519
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Full text: 1 Database: MEDLINE Main subject: Cell Movement / Frameshift Mutation / Rho Guanine Nucleotide Exchange Factors / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Year: 2017 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Cell Movement / Frameshift Mutation / Rho Guanine Nucleotide Exchange Factors / Intellectual Disability Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Female / Humans / Male Language: En Year: 2017 Type: Article