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CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Royer-Bertrand, Beryl; Cisarova, Katarina; Niel Bütschi, Florence; Foletti, Giovanni; Guinchat, Vincent; Tran, Christel; Superti-Furga, Andrea; Good, Jean-Marc.
Afiliação
  • Royer-Bertrand B; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
  • Cisarova K; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
  • Niel Bütschi F; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
  • Foletti G; Neurology-Epileptology, Institution of Lavigny, Lavigny, Switzerland.
  • Guinchat V; Department of Psychiatry, Psychiatric Section of Mental Development, Lausanne University Hospital (CHUV), Prilly-Lausanne, Switzerland.
  • Tran C; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
  • Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
  • Good JM; Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
Am J Med Genet A ; 185(8): 2602-2606, 2021 08.
Article em En | MEDLINE | ID: mdl-34018673
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Convulsões / Transtorno Autístico / Haploinsuficiência / Deficiência Intelectual Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Convulsões / Transtorno Autístico / Haploinsuficiência / Deficiência Intelectual Idioma: En Ano de publicação: 2021 Tipo de documento: Article