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Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature.
Cinque, Luigia; Angeletti, Cristina; Orrico, Alfredo; Castellana, Stefano; Ferrito, Lucia; Ciuoli, Cristina; Mazza, Tommaso; Castori, Marco; Guarnieri, Vito.
Afiliação
  • Cinque L; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Angeletti C; UOC Pediatrics and Neonatology, POU AV2, 60122 Senigallia, Italy.
  • Orrico A; Molecular Diagnosis and Characterization of Pathogenic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
  • Castellana S; Clinical Genetics, ASL Toscana SudEst. Ospedale della Misericordia, 58100 Grosseto, Italy.
  • Ferrito L; Unit of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
  • Ciuoli C; UOC Pediatrics and Neonatology, POU AV2, 60122 Senigallia, Italy.
  • Mazza T; Department of Medical, Surgical and Neurological Sciences, UOC Endocrinology, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
  • Castori M; Clinical Genetics, ASL Toscana SudEst. Ospedale della Misericordia, 58100 Grosseto, Italy.
  • Guarnieri V; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Biomedicines ; 8(12)2020 Dec 19.
Article em En | MEDLINE | ID: mdl-33352647
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Biomedicines Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Idioma: En Revista: Biomedicines Ano de publicação: 2020 Tipo de documento: Article