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Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?
Moller-Hansen, Ashley; Hejla, Duha; Lee, Hyun Kyung; Lyles, Jenea Barbara; Yang, Yunhan; Chen, Kun; Li, Wenhui Laura; Thomas, Gary; Boerkoel, Cornelius F.
Afiliación
  • Moller-Hansen A; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Hejla D; Department of Pediatrics, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Lee HK; Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
  • Lyles JB; Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Yang Y; University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania, USA.
  • Chen K; University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Li WL; Department of Microbiology and Molecular Genetics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Thomas G; University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania, USA.
  • Boerkoel CF; University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Am J Med Genet A ; 191(8): 2181-2187, 2023 08.
Article en En | MEDLINE | ID: mdl-37141437
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte Vesicular / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas de Transporte Vesicular / Trastornos del Neurodesarrollo / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Canadá