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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle; Makrythanasis, Periklis; Santoni, Federico; Sloan-Béna, Frédérique; Gimelli, Stefania; Blouin, Jean-Louis; Guipponi, Michel; Bottani, Armand; Antonarakis, Stylianos E; Kosel, Markus M; Fluss, Joel; Paoloni-Giacobino, Ariane.
Afiliação
  • Lambert N; Unité Santé Jeunes, Department of Child and Adolescent Health, Geneva University Hospitals, Geneva, Switzerland. nellelambert@gmail.com.
  • Dauve C; Department of Mental Health and Psychiatry, Service of Psychiatric Specialties, Geneva University Hospitals, Geneva, Switzerland.
  • Ranza E; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Santoni F; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Sloan-Béna F; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Gimelli S; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Blouin JL; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Guipponi M; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Bottani A; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
  • Kosel MM; Department of Mental Health and Psychiatry, Service of Psychiatric Specialties, Geneva University Hospitals, Geneva, Switzerland.
  • Fluss J; Pediatric Neurology Unit, Department of Child and Adolescent Health, Geneva University Hospitals, Geneva, Switzerland.
  • Paoloni-Giacobino A; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
J Hum Genet ; 63(7): 847-850, 2018 Jul.
Article em En | MEDLINE | ID: mdl-29717186
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequência de Bases / Deleção de Sequência / Epilepsia / Transtorno do Espectro Autista / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequência de Bases / Deleção de Sequência / Epilepsia / Transtorno do Espectro Autista / Deficiência Intelectual / Proteínas do Tecido Nervoso Tipo de estudo: Diagnostic_studies Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Suíça