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Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann-Steiner syndrome.
Nardello, Rosaria; Mangano, Giuseppe Donato; Fontana, Antonina; Gagliardo, Cesare; Midiri, Federico; Borgia, Paola; Brighina, Filippo; Raieli, Vincenzo; Mangano, Salvatore; Salpietro, Vincenzo.
Afiliação
  • Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy. Electronic address: rosaria.nardello@unipa.it.
  • Mangano GD; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
  • Fontana A; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
  • Gagliardo C; Department of Biomedicine, Neurosciences and Advanced Diagnostics, University of Palermo, Palermo, Italy.
  • Midiri F; Department of Biomedicine, Neurosciences and Advanced Diagnostics, University of Palermo, Palermo, Italy.
  • Borgia P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.
  • Brighina F; Department of Experimental Biomedicine and Clinical Neurosciences, University of Palermo, Palermo, Italy.
  • Raieli V; Child Neuropsychiatry Department, Di Cristina - ARNAS Civico Hospital, Palermo, Italy.
  • Mangano S; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro," University of Palermo, Palermo, Italy.
  • Salpietro V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS, Istituto "Giannina Gaslini", Genoa, Italy.
Eur J Med Genet ; 64(2): 104133, 2021 Feb.
Article em En | MEDLINE | ID: mdl-33387673
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Histona-Lisina N-Metiltransferase / Proteína de Leucina Linfoide-Mieloide / Malformações do Desenvolvimento Cortical / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Histona-Lisina N-Metiltransferase / Proteína de Leucina Linfoide-Mieloide / Malformações do Desenvolvimento Cortical / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article