Associated Papers
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 L et al.
Biomedicines, 2020
Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1.
Carey B et al.
Oral Diseases, 2019
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