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De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
Dyment, David A; Terhal, Paulien A; Rustad, Cecilie F; Tveten, Kristian; Griffith, Christopher; Jayakar, Parul; Shinawi, Marwan; Ellingwood, Sara; Smith, Rosemarie; van Gassen, Koen; McWalter, Kirsty; Innes, A Micheil; Lines, Matthew A.
Afiliação
  • Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
  • Terhal PA; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada.
  • Rustad CF; Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.
  • Tveten K; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Griffith C; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
  • Jayakar P; University of South Florida, Tampa, FL, USA.
  • Shinawi M; Nicklaus Children's Hospital, Miami, FL, USA.
  • Ellingwood S; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
  • Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.
  • van Gassen K; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.
  • McWalter K; Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.
  • Innes AM; GeneDx, Gaithersburg, MD, USA.
  • Lines MA; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Eur J Hum Genet ; 27(10): 1611-1618, 2019 10.
Article em En | MEDLINE | ID: mdl-31278393
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Epilepsia / Canais de Cátion TRPM / Estudos de Associação Genética / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Epilepsia / Canais de Cátion TRPM / Estudos de Associação Genética / Deficiência Intelectual / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Canadá País de publicação: Reino Unido