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The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
Woodbury-Smith, Marc; D'Abate, Lia; Stavropoulos, Dimitri J; Howe, Jennifer; Drmic, Irene; Hoang, Ny; Zarrei, Mehdi; Trost, Brett; Iaboni, Alana; Anagnostou, Evdokia; Scherer, Stephen W.
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  • Woodbury-Smith M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada marc.woodbury-smith@newcastle.ac.uk.
  • D'Abate L; Biosciences Institute, Newcastle University, Newcastle upon Tyne, UK.
  • Stavropoulos DJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Howe J; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Drmic I; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Hoang N; Genome Diagnostics, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, ON, Canada.
  • Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Iaboni A; Ron Joyce Children's Health Centre, Autism Spectrum Disorder (ASD) Program and Child and Youth Mental Health Program, McMaster Autism Research Team, McMaster University, Hamilton, Hamilton, Ontario, Canada.
  • Anagnostou E; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Scherer SW; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, Ontario, Canada.
J Med Genet ; 60(12): 1153-1160, 2023 Nov 27.
Article en En | MEDLINE | ID: mdl-37290907
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: J Med Genet Año: 2023 Tipo del documento: Article País de afiliación: Canadá