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Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
Filatova, Alina; Rey, Linda K; Lechler, Marion B; Schaper, Jörg; Hempel, Maja; Posmyk, Renata; Szczaluba, Krzysztof; Santen, Gijs W E; Wieczorek, Dagmar; Nuber, Ulrike A.
Afiliação
  • Filatova A; Stem Cell and Developmental Biology, Technical University Darmstadt, Darmstadt, 64287, Germany.
  • Rey LK; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, 40225, Germany.
  • Lechler MB; Stem Cell and Developmental Biology, Technical University Darmstadt, Darmstadt, 64287, Germany.
  • Schaper J; Department of Diagnostic and Interventional Radiology, Medical Faculty, Heinrich Heine University, Düsseldorf, 40225, Germany.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.
  • Posmyk R; Podlaskie Medical Centre "GENETICS" Bialystok and Department of Perinatology and Obstetrics, Medical University of Bialystok, Bialystok, 15-276, Poland.
  • Szczaluba K; Department of Medical Genetics, Medical University Warsaw, Warsaw, 02-106, Poland.
  • Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333 ZA, Netherlands.
  • Wieczorek D; Institute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, 40225, Germany.
  • Nuber UA; Stem Cell and Developmental Biology, Technical University Darmstadt, Darmstadt, 64287, Germany. nuber@bio.tu-darmstadt.de.
Nat Commun ; 10(1): 2966, 2019 07 04.
Article em En | MEDLINE | ID: mdl-31273213
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deformidades Congênitas da Mão / Corpo Caloso / Face / Agenesia do Corpo Caloso / Proteína SMARCB1 / Deficiência Intelectual / Micrognatismo / Pescoço Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deformidades Congênitas da Mão / Corpo Caloso / Face / Agenesia do Corpo Caloso / Proteína SMARCB1 / Deficiência Intelectual / Micrognatismo / Pescoço Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha