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Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
Pinto, Anna Maria; Bianciardi, Laura; Mencarelli, Maria Antonietta; Imperatore, Valentina; Di Marco, Chiara; Furini, Simone; Suppiej, Agnese; Salviati, Leonardo; Tenconi, Romano; Ariani, Francesca; Mari, Francesca; Renieri, Alessandra.
Afiliação
  • Pinto AM; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Bianciardi L; Medical Genetics, University of Siena, Siena, Italy.
  • Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Imperatore V; Medical Genetics, University of Siena, Siena, Italy.
  • Di Marco C; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Furini S; Department of Medical Biotechnologies, University of Siena, Siena, Italy.
  • Suppiej A; Child Neurology Unit, Department of Woman's and Child's Health, University Hospital of Padova, Padova, Italy.
  • Salviati L; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Italy.
  • Tenconi R; University of Padova, Padova, Italy.
  • Ariani F; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Mari F; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
  • Renieri A; Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy. Electronic address: alessandra.renieri@unisi.it.
Brain Dev ; 38(6): 590-6, 2016 Jun.
Article em En | MEDLINE | ID: mdl-26754451
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Gêmeos Monozigóticos / Proteínas de Ligação a DNA / Deficiência Intelectual Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Gêmeos Monozigóticos / Proteínas de Ligação a DNA / Deficiência Intelectual Idioma: En Ano de publicação: 2016 Tipo de documento: Article