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A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder.
Tessadori, Federico; Rehman, Atteeq U; Giltay, Jacques C; Xia, Fan; Streff, Haley; Duran, Karen; Bakkers, Jeroen; Lalani, Seema R; van Haaften, Gijs.
Afiliação
  • Tessadori F; Hubrecht Institute-KNAW and UMC Utrecht, 3584 CT, Utrecht, The Netherlands.
  • Rehman AU; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.
  • Giltay JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Xia F; New York Genome Center, New York, NY, USA.
  • Streff H; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.
  • Duran K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Bakkers J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Lalani SR; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.
  • van Haaften G; Hubrecht Institute-KNAW and UMC Utrecht, 3584 CT, Utrecht, The Netherlands.
Eur J Hum Genet ; 28(5): 674-678, 2020 05.
Article em En | MEDLINE | ID: mdl-31804630
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Histonas / Deficiências do Desenvolvimento / Anormalidades Craniofaciais / Modelos Animais de Doenças / Deficiência Intelectual Idioma: En Ano de publicação: 2020 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: Histonas / Deficiências do Desenvolvimento / Anormalidades Craniofaciais / Modelos Animais de Doenças / Deficiência Intelectual Idioma: En Ano de publicação: 2020 Tipo de documento: Article