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Maternally derived 15q11.2-q13.1 duplication in a child with Lennox-Gastaut-type epilepsy and dysmorphic features: Clinical-genetic characterization of the family and review of the literature.
Bonuccelli, Alice; Valetto, Angelo; Orsini, Alessandro; Michelucci, Angela; Ferrari, Anna Rita; Elia, Maurizio; Bertini, Veronica.
Afiliação
  • Bonuccelli A; Section of Pediatric Neurology, Department of Pediatrics, University of Pisa, Italy.
  • Valetto A; Section of Clinical Genetics, AOUP, Pisa, Italy.
  • Orsini A; Section of Pediatric Neurology, Department of Pediatrics, University of Pisa, Italy.
  • Michelucci A; Department of Pediatric Neurology, Oxford Children's Hospital, Oxford, United Kingdom.
  • Ferrari AR; Section of Clinical Genetics, AOUP, Pisa, Italy.
  • Elia M; Epilepsy Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy.
  • Bertini V; Unit of Neurology and Clinical Neurophysiopathology, IRCCS "Associazione Oasi Maria SS", Troina (EN), Italy.
Am J Med Genet A ; 173(2): 556-560, 2017 02.
Article em En | MEDLINE | ID: mdl-27862928
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 15 / Duplicação Cromossômica / Síndrome de Lennox-Gastaut / Herança Materna Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 15 / Duplicação Cromossômica / Síndrome de Lennox-Gastaut / Herança Materna Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Ano de publicação: 2017 Tipo de documento: Article