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Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Giacomini, Thea; Vari, Maria Stella; Janis, Sara; Prato, Giulia; Pisciotta, Livia; Rocchi, Alessia; Michelucci, Angela; Di Rocco, Maja; Gandullia, Paolo; Mattioli, Girolamo; Sacco, Oliviero; Morana, Giovanni; Mancardi, Maria Margherita.
Afiliação
  • Giacomini T; Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy.
  • Vari MS; Unit of Neurology and Neuromuscolar Diseases, Department of Clinical and Surgical Neurosciences and Rehabilitation, Istituto Giannina Gaslini, Genova, Italy.
  • Janis S; Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy.
  • Prato G; Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy.
  • Pisciotta L; Unit of Child Neuropsychiatry, Istituto Giannina Gaslini, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, University of Genova, Genova, Italy.
  • Rocchi A; Unit of First Aid, Newborn and Children Area, Department of Woman, Child and Newborn, IRCCS Ca' Granda Maggiore Policlinico Hospital, Milan, Italy.
  • Michelucci A; Laboratory of Medical Genetic Unit, Azienda Ospedaliero Universitaria Pisana, S. Chiara Hospital, Pisa, Italy.
  • Di Rocco M; Unit of Rare Diseases, Department of Pediatrics, IRCSS Istituto Giannina Gaslini, Genova, Italy.
  • Gandullia P; Unit of Gastroenterology, IRCSS Istituto Giannina Gaslini, Genova, Italy.
  • Mattioli G; Unit of Surgery, IRCSS Istituto Giannina Gaslini, Genova, Italy.
  • Sacco O; Unit of Pneumology, IRCSS Istituto Giannina Gaslini, Genova, Italy.
  • Morana G; Unit of Neuroradiology, IRCSS Istituto Giannina Gaslini, Genova, Italy.
  • Mancardi MM; Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Clinical and Surgical Neurosciences and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genova, Italy.
Neuropediatrics ; 50(5): 327-331, 2019 10.
Article em En | MEDLINE | ID: mdl-31319423
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Puberdade Precoce / Epilepsias Mioclônicas / Talassemia alfa / Distúrbios Distônicos / Deficiência Intelectual Ligada ao Cromossomo X / Proteína Nuclear Ligada ao X Limite: Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Puberdade Precoce / Epilepsias Mioclônicas / Talassemia alfa / Distúrbios Distônicos / Deficiência Intelectual Ligada ao Cromossomo X / Proteína Nuclear Ligada ao X Limite: Child / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article