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Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay.
Bruno, Lucia Pia; Fava, Francesca; Baldassarri, Margherita; Salvati, Virginia M; Scandurra, Valeria; Canitano, Roberto; Valentino, Floriana; Doddato, Gabriella; Tita, Rossella; Giliberti, Annarita; Renieri, Alessandra; Ariani, Francesca.
Afiliação
  • Bruno LP; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.
  • Fava F; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
  • Baldassarri M; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.
  • Salvati VM; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
  • Scandurra V; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
  • Canitano R; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.
  • Valentino F; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
  • Doddato G; UOSD Pediatria Cava de' Tirreni- AOU S. Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy.
  • Tita R; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy.
  • Giliberti A; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy.
  • Renieri A; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.
  • Ariani F; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
J Autism Dev Disord ; 52(10): 4605-4607, 2022 10.
Article em En | MEDLINE | ID: mdl-34709531
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridose III / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridose III / Transtornos do Neurodesenvolvimento / Transtorno do Espectro Autista / Malformações do Sistema Nervoso Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article