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Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò, Gianluca; Micalizzi, Alessia; Giangiobbe, Sara; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Rosato, Simonetta; Pollazzon, Marzia; Terracciano, Alessandra; Napoli, Manuela; Rizzi, Susanna; Salerno, Grazia Gabriella; Radio, Francesca Clementina; Niceta, Marcello; Parrini, Elena; Fusco, Carlo; Gargano, Giancarlo; Guerrini, Renzo; Tartaglia, Marco; Novelli, Antonio; Zuffardi, Orsetta; Garavelli, Livia.
Afiliação
  • Contrò G; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Micalizzi A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Giangiobbe S; Clinical Genomics, Medical Genetics Service, San Raffaele Hospital, 20132 Milan, Italy.
  • Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Zuntini R; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Rosato S; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Pollazzon M; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Napoli M; Neuroradiology Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Rizzi S; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Salerno GG; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Radio FC; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy.
  • Fusco C; Child Neurology and Psychiatry Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Gargano G; Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Zuffardi O; Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.
  • Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
Genes (Basel) ; 12(8)2021 08 05.
Article em En | MEDLINE | ID: mdl-34440382
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas de Fusão Oncogênica / Proteínas do Citoesqueleto / Lisencefalia / Lissencefalias Clássicas e Heterotopias Subcorticais em Banda Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2021 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: Fenótipo / Proteínas de Fusão Oncogênica / Proteínas do Citoesqueleto / Lisencefalia / Lissencefalias Clássicas e Heterotopias Subcorticais em Banda Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Itália