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

Background. Autoimmune polyglandular syndrome type 1 (APS-1) with or without reversible metaphyseal dysplasia is a rare genetic disorder due to inactivating variants of the autoimmune regulator, AIRE, gene. Clinical variability of APS-1 relates to pleiotropy, and the general dysfunction of self-tole...

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Detalhes bibliográficos
Publicado no:Biomedicines
Main Authors: Cinque, Luigia, Angeletti, Cristina, Orrico, Alfredo, Castellana, Stefano, Ferrito, Lucia, Ciuoli, Cristina, Mazza, Tommaso, Castori, Marco, Guarnieri, Vito
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7767245/
https://ncbi.nlm.nih.gov/pubmed/33352647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/biomedicines8120631
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