Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

• Ethiraj Ravindran ,

  Contributed equally to this work with: Ethiraj Ravindran, Hao Hu

  Affiliations Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Berlin, Germany, Department of Pediatric Neurology, Charité University Medicine Berlin, Berlin, Germany, Sozialpädiatrisches Zentrum (SPZ), Center for Chronic Sick Children, Charité University, Berlin, Germany

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• Hao Hu ,

  Contributed equally to this work with: Ethiraj Ravindran, Hao Hu

  Current address: Guangzhou Women and Children’s Medical Center, Guangzhou, China

  Affiliations Max Planck Institute for Molecular Genetics, Berlin, Germany, Guangzhou Women and Children's Medical Center, Guangzhou, China

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• Scott A. Yuzwa,

  Affiliations Department of Molecular Genetics, University of Toronto, Toronto, Canada, Program in Neurosciences & Mental Health, Hospital for Sick Children, Toronto, Canada

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• Luis R. Hernandez-Miranda,

  Affiliation Max-Delbrück-Center for Molecular Medicine, Berlin, Germany

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• Nadine Kraemer,

  Affiliations Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Berlin, Germany, Department of Pediatric Neurology, Charité University Medicine Berlin, Berlin, Germany, Sozialpädiatrisches Zentrum (SPZ), Center for Chronic Sick Children, Charité University, Berlin, Germany

  http://orcid.org/0000-0002-7002-5161

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• Olaf Ninnemann,

  Affiliation Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Berlin, Germany

  http://orcid.org/0000-0003-4485-6444

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• Luciana Musante,

  Affiliation Max Planck Institute for Molecular Genetics, Berlin, Germany

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• Eugen Boltshauser,

  Affiliation Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland

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• Detlev Schindler,

  Affiliation Department of Human Genetics, University of Würzburg, Würzburg, Germany

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• Angela Hübner,

  Affiliation Pediatrics, University Hospital, Technical University Dresden, Dresden, Germany

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• Hans-Christian Reinecker,

  Affiliation Gastrointestinal Unit and Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States of America

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• Hans-Hilger Ropers,

  Affiliation Max Planck Institute for Molecular Genetics, Berlin, Germany

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• Carmen Birchmeier,

  Affiliation Max-Delbrück-Center for Molecular Medicine, Berlin, Germany

  http://orcid.org/0000-0002-2041-8872

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• Freda D. Miller,

  Affiliations Department of Molecular Genetics, University of Toronto, Toronto, Canada, Program in Neurosciences & Mental Health, Hospital for Sick Children, Toronto, Canada

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• Thomas F. Wienker,

  Affiliation Max Planck Institute for Molecular Genetics, Berlin, Germany

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• Christoph Hübner,

  Affiliation Department of Pediatric Neurology, Charité University Medicine Berlin, Berlin, Germany

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•  [ ... ],
• Angela M. Kaindl

  * E-mail: angela.kaindl@charite.de

  Affiliations Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Berlin, Germany, Department of Pediatric Neurology, Charité University Medicine Berlin, Berlin, Germany, Sozialpädiatrisches Zentrum (SPZ), Center for Chronic Sick Children, Charité University, Berlin, Germany

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