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Clinical delineation of SETBP1 haploinsufficiency disorder.
Jansen, Nadieh A; Braden, Ruth O; Srivastava, Siddharth; Otness, Erin F; Lesca, Gaetan; Rossi, Massimiliano; Nizon, Mathilde; Bernier, Raphael A; Quelin, Chloé; van Haeringen, Arie; Kleefstra, Tjitske; Wong, Maggie M K; Whalen, Sandra; Fisher, Simon E; Morgan, Angela T; van Bon, Bregje W.
Afiliação
  • Jansen NA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Braden RO; Speech and Language, Murdoch Children's Research Institute, Victoria, Australia.
  • Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Otness EF; Deparment of Pediatrics, Texas Children's Pediatrics Sugar Land, Sugar Land, USA.
  • Lesca G; Service de Génétique, Hospices Civils de Lyon, Lyon, France.
  • Rossi M; Service de Génétique, Hospices Civils de Lyon, Lyon, France.
  • Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, USA.
  • Quelin C; Service de Genetique Medicale, CLAD Ouest CHU Hôpital Sud, Rennes, France.
  • van Haeringen A; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
  • Whalen S; Clinical and Medical Genetic Department, Armand Trousseau Hospital, APHP, Paris, France.
  • Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
  • Morgan AT; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
  • van Bon BW; Speech and Language, Murdoch Children's Research Institute, Victoria, Australia.
Eur J Hum Genet ; 29(8): 1198-1205, 2021 08.
Article em En | MEDLINE | ID: mdl-33867525
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Transtorno do Deficit de Atenção com Hiperatividade / Proteínas Nucleares / Proteínas de Transporte / Deficiências do Desenvolvimento / Haploinsuficiência / Deficiência Intelectual Tipo de estudo: Guideline Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Transtorno do Deficit de Atenção com Hiperatividade / Proteínas Nucleares / Proteínas de Transporte / Deficiências do Desenvolvimento / Haploinsuficiência / Deficiência Intelectual Tipo de estudo: Guideline Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda