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A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.
Maini, I; Farnetti, E; Caraffi, S G; Ivanovski, I; De Bernardi, M L; Gelmini, C; Pollazzon, M; Rosato, S; Laurie, S; Matalonga, L; Baldo, C; Garavelli, L.
Afiliação
  • Maini I; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.
  • Farnetti E; Laboratory of Molecular Biology, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.
  • Caraffi SG; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.
  • Ivanovski I; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.
  • De Bernardi ML; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.
  • Gelmini C; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.
  • Pollazzon M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.
  • Rosato S; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.
  • Laurie S; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
  • Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
  • Baldo C; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy.
  • Garavelli L; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Azienda Unità Sanitaria Locale, Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia, Italy.
Neuropediatrics ; 49(3): 222-224, 2018 06.
Article em En | MEDLINE | ID: mdl-29642246
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dedos do Pé / Polidactilia / Ciclina D2 / Megalencefalia / Dedos / Polimicrogiria / Hidrocefalia / Mutação Limite: Child / Female / Humans Idioma: En Revista: Neuropediatrics Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dedos do Pé / Polidactilia / Ciclina D2 / Megalencefalia / Dedos / Polimicrogiria / Hidrocefalia / Mutação Limite: Child / Female / Humans Idioma: En Revista: Neuropediatrics Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália