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Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Kuechler, Alma; Czeschik, Johanna Christina; Graf, Elisabeth; Grasshoff, Ute; Hüffmeier, Ulrike; Busa, Tiffany; Beck-Woedl, Stefanie; Faivre, Laurence; Rivière, Jean-Baptiste; Bader, Ingrid; Koch, Johannes; Reis, André; Hehr, Ute; Rittinger, Olaf; Sperl, Wolfgang; Haack, Tobias B; Wieland, Thomas; Engels, Hartmut; Prokisch, Holger; Strom, Tim M; Lüdecke, Hermann-Josef; Wieczorek, Dagmar.
Afiliação
  • Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Czeschik JC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Graf E; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Grasshoff U; Institut für Medizinische Genetik und Angewandte Genomik, Universitätsklinikum Tübingen, Tübingen, Germany.
  • Hüffmeier U; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Busa T; Centre de Référence Anomalies du Développement et Syndromes Malformatifs PACA, Service de génétique Clinique, Hôpital Timone Enfants, Marseille, France.
  • Beck-Woedl S; Institut für Medizinische Genetik und Angewandte Genomik, Universitätsklinikum Tübingen, Tübingen, Germany.
  • Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD, Hôpital d'Enfants, Dijon, France.
  • Rivière JB; EA 4271 GAD, Université de Bourgogne, Dijon, France.
  • Bader I; Laboratoire de Génétique Moléculaire, CHU de Dijon, Dijon, France.
  • Koch J; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Reis A; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Hehr U; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Rittinger O; Zentrum für Humangenetik, Universitätsklinikum Regensburg, Regensburg, Germany.
  • Sperl W; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Haack TB; Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.
  • Wieland T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Engels H; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Strom TM; Institute of Human Genetics, University of Bonn, Bonn, Germany.
  • Lüdecke HJ; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Wieczorek D; Institute of Human Genetics, Technische Universität München, Munich, Germany.
Eur J Hum Genet ; 25(2): 183-191, 2017 02.
Article em En | MEDLINE | ID: mdl-27901041
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deficiências do Desenvolvimento / Insuficiência de Crescimento Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Deficiências do Desenvolvimento / Insuficiência de Crescimento Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article