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A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report.
Santoro, Claudia; Giugliano, Teresa; Bernardo, Pia; Palladino, Federica; Torella, Annalaura; Del Vecchio Blanco, Francesca; Onore, Maria Elena; Carotenuto, Marco; Nigro, Vincenzo; Piluso, Giulio.
  • Santoro C; Department of Physical and Mental Health, and Preventive Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Giugliano T; Department of Women, Children, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Bernardo P; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio,7 -, 80138, Naples, Italy.
  • Palladino F; Department of Neurosciences, Pediatric Hospital Santobono-Pausilipon, Naples, Italy.
  • Torella A; Department of Women, Children, and General and Specialized Surgery, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Del Vecchio Blanco F; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio,7 -, 80138, Naples, Italy.
  • Onore ME; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio,7 -, 80138, Naples, Italy.
  • Carotenuto M; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio,7 -, 80138, Naples, Italy.
  • Nigro V; Department of Physical and Mental Health, and Preventive Medicine, University of Campania "Luigi Vanvitelli", Naples, Italy.
  • Piluso G; Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio,7 -, 80138, Naples, Italy.
BMC Neurol ; 20(1): 327, 2020 Sep 01.
Article en En | MEDLINE | ID: mdl-32873259
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Neurofibromatosis 1 / Proteínas de Unión al GTP rab / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Neurofibromatosis 1 / Proteínas de Unión al GTP rab / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Año: 2020 Tipo del documento: Article