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Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok, Lot; Vino, Arianna; den Hoed, Joery; Underhill, Hunter R; Monteil, Danielle; Li, Hong; Reynoso Santos, Francis Jeshira; Chung, Wendy K; Amaral, Michelle D; Schnur, Rhonda E; Santiago-Sim, Teresa; Si, Yue; Brunner, Han G; Kleefstra, Tjitske; Fisher, Simon E.
Afiliação
  • Snijders Blok L; Human Genetics Department, Radboud University Medical Center, Nijmegen, The Netherlands. lot.snijdersblok@radboudumc.nl.
  • Vino A; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. lot.snijdersblok@radboudumc.nl.
  • den Hoed J; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. lot.snijdersblok@radboudumc.nl.
  • Underhill HR; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
  • Monteil D; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
  • Li H; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
  • Reynoso Santos FJ; Department of Pediatrics, Naval Medical Center, Portsmouth, VA, USA.
  • Chung WK; Department of Human Genetics, Emory University, Atlanta, GA, USA.
  • Amaral MD; Department of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
  • Schnur RE; Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, FL, USA.
  • Santiago-Sim T; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
  • Si Y; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
  • Brunner HG; GeneDx, Gaithersburg, MD, USA.
  • Kleefstra T; GeneDx, Gaithersburg, MD, USA.
  • Fisher SE; GeneDx, Gaithersburg, MD, USA.
Genet Med ; 23(3): 534-542, 2021 03.
Article em En | MEDLINE | ID: mdl-33110267
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda