A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2

• Elisa Degenkolbe ,

  Contributed equally to this work with: Elisa Degenkolbe, Jana König

  Affiliations Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité – Universitätsmedizin Berlin, Berlin, Germany, Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité – Universitätsmedizin Berlin, Berlin, Germany

  ⨯
• Jana König ,

  Contributed equally to this work with: Elisa Degenkolbe, Jana König

  Current address: Roche Diagnostics International AG, Rotkreuz, Switzerland.

  Affiliations Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité – Universitätsmedizin Berlin, Berlin, Germany, Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité – Universitätsmedizin Berlin, Berlin, Germany

  ⨯
• Julia Zimmer,

  Current address: Section of Clinical Allergology, Paul-Ehrlich-Institut Federal Institute for Vaccines and Biomedicines, Langen, Germany.

  Affiliations Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité – Universitätsmedizin Berlin, Berlin, Germany, Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité – Universitätsmedizin Berlin, Berlin, Germany

  ⨯
• Maria Walther,

  Affiliation Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité – Universitätsmedizin Berlin, Berlin, Germany

  ⨯
• Carsten Reißner,

  Affiliation Institute of Anatomy, Dept. Anatomy and Molecular Neurobiology, Universitätsklinikum Münster, Münster, Germany

  ⨯
• Joachim Nickel,

  Affiliations Lehrstuhl für Physiologische Chemie II, Theodor-Boveri-Institut für Biowissenschaften (Biozentrum) der Universität Würzburg, Würzburg, Germany, Department of Tissue Engineering and Regenerative Medicine, Universitätsklinikum Würzburg, Würzburg, Germany

  ⨯
• Frank Plöger,

  Affiliation Biopharm GmbH, Heidelberg, Germany

  ⨯
• Jelena Raspopovic,

  Affiliations EMBL-CRG Systems Biology Program, Centre for Genomic Regulation, Barcelona, Spain, Universitat Pompeu Fabra (UPF), Barcelona, Spain

  ⨯
• James Sharpe,

  Affiliations EMBL-CRG Systems Biology Program, Centre for Genomic Regulation, Barcelona, Spain, Universitat Pompeu Fabra (UPF), Barcelona, Spain, Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain

  ⨯
• Katarina Dathe,

  Affiliation Institut für Medizinische Genetik und Humangenetik, Charité – Universitätsmedizin Berlin, Berlin, Germany

  ⨯
• Jacqueline T. Hecht,

  Affiliation Department of Pediatrics, University of Texas Medical School at Houston, Houston, Texas, United States of America

  ⨯
• Stefan Mundlos,

  Affiliations Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité – Universitätsmedizin Berlin, Berlin, Germany, Institut für Medizinische Genetik und Humangenetik, Charité – Universitätsmedizin Berlin, Berlin, Germany, Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany

  ⨯
• Sandra C. Doelken,

  Affiliation Institut für Medizinische Genetik und Humangenetik, Charité – Universitätsmedizin Berlin, Berlin, Germany

  ⨯
• Petra Seemann

  * E-mail: petra.seemann@charite.de

  Affiliations Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité – Universitätsmedizin Berlin, Berlin, Germany, Berlin-Brandenburg School for Regenerative Therapies (BSRT), Charité – Universitätsmedizin Berlin, Berlin, Germany, Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany

  ⨯