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De novo mutations in PLXND1 and REV3L cause Möbius syndrome.
Tomas-Roca, Laura; Tsaalbi-Shtylik, Anastasia; Jansen, Jacob G; Singh, Manvendra K; Epstein, Jonathan A; Altunoglu, Umut; Verzijl, Harriette; Soria, Laura; van Beusekom, Ellen; Roscioli, Tony; Iqbal, Zafar; Gilissen, Christian; Hoischen, Alexander; de Brouwer, Arjan P M; Erasmus, Corrie; Schubert, Dirk; Brunner, Han; Pérez Aytés, Antonio; Marin, Faustino; Aroca, Pilar; Kayserili, Hülya; Carta, Arturo; de Wind, Niels; Padberg, George W; van Bokhoven, Hans.
Afiliação
  • Tomas-Roca L; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Tsaalbi-Shtylik A; Department of Human Anatomy and Psychobiology, School of Medicine, University of Murcia, 30100 Espinardo (Murcia), Spain.
  • Jansen JG; Department of Human Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
  • Singh MK; Department of Human Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
  • Epstein JA; Department of Cell and Developmental Biology, Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, 9-105 SCTR, 3400 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
  • Altunoglu U; Signature Research Program in Cardiovascular and Metabolic Disorders, Duke-NUS Graduate Medical School Singapore, National Heart Center Singapore, 8 College Road, Singapore 169857, Singapore.
  • Verzijl H; Department of Cell and Developmental Biology, Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, 9-105 SCTR, 3400 Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA.
  • Soria L; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, Capa, Fatih 34093, Turkey.
  • van Beusekom E; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Roscioli T; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Iqbal Z; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Hoischen A; The Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales 2010, Australia.
  • de Brouwer APM; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Erasmus C; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Schubert D; Department of Human Genetics, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences (RIMLS), PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Brunner H; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Pérez Aytés A; Department of Neurology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Marin F; Department of Cognitive Neuroscience, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Aroca P; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, PO Box 9101, Nijmegen 6500 HB, The Netherlands.
  • Kayserili H; Department of Clinical Genetics, Maastricht University Medical Center, PO Box 5800, Maastricht 6200AZ, The Netherlands.
  • Carta A; Dysmorphology and Reproductive Genetics Unit, Moebius Syndrome Foundation of Spain, University Hospital LA FE, Valencia 46540, Spain.
  • de Wind N; Department of Human Anatomy and Psychobiology, School of Medicine, University of Murcia, 30100 Espinardo (Murcia), Spain.
  • Padberg GW; Department of Human Anatomy and Psychobiology, School of Medicine, University of Murcia, 30100 Espinardo (Murcia), Spain.
  • van Bokhoven H; Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, Capa, Fatih 34093, Turkey.
Nat Commun ; 6: 7199, 2015 Jun 12.
Article em En | MEDLINE | ID: mdl-26068067
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Moléculas de Adesão Celular Neuronais / Síndrome de Möbius / Proteínas de Ligação a DNA / DNA Polimerase Dirigida por DNA / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Moléculas de Adesão Celular Neuronais / Síndrome de Möbius / Proteínas de Ligação a DNA / DNA Polimerase Dirigida por DNA / Mutação Idioma: En Ano de publicação: 2015 Tipo de documento: Article