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Heterozygous variants in SPTBN1 cause intellectual disability and autism.
Rosenfeld, Jill A; Xiao, Rui; Bekheirnia, Mir Reza; Kanani, Farah; Parker, Michael J; Koenig, Mary K; van Haeringen, Arie; Ruivenkamp, Claudia; Rosmaninho-Salgado, Joana; Almeida, Pedro M; Sá, Joaquim; Pinto Basto, Jorge; Palen, Emily; Oetjens, Kathryn F; Burrage, Lindsay C; Xia, Fan; Liu, Pengfei; Eng, Christine M; Yang, Yaping; Posey, Jennifer E; Lee, Brendan H.
Afiliación
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Bekheirnia MR; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Kanani F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Parker MJ; Renal Section, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  • Koenig MK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • van Haeringen A; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
  • Ruivenkamp C; Department of Pediatrics, University of Texas McGovern Medical School, Houston, Texas, USA.
  • Rosmaninho-Salgado J; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Almeida PM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands.
  • Sá J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Pinto Basto J; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Palen E; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Oetjens KF; Molecular Diagnostics and Clinical Genomics, CGC Genetics, Porto, Portugal.
  • Burrage LC; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
  • Xia F; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Eng CM; Texas Children's Hospital, Houston, Texas, USA.
  • Yang Y; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Lee BH; Baylor Genetics Laboratories, Houston, Texas, USA.
Am J Med Genet A ; 185(7): 2037-2045, 2021 07.
Article en En | MEDLINE | ID: mdl-33847457
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Convulsiones / Trastorno Autístico / Espectrina / Epilepsia / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Convulsiones / Trastorno Autístico / Espectrina / Epilepsia / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos