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机译:Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: Confirmation that R203X is the peculiar AIRE gene mutation
Department of Clinical and Biological Sciences, Torino University, Turin, Italy;
Endocrine Unit, Department of Medical and Surgical Sciences, Padua University, Padua, Italy;
Endocrine Unit, Department of Biomedical Internal and Specialist Medicine (DIBIMIS), Palermo;
Addison's disease; APECED; Autoimmune polyendocrine syndrome type 1; Chronic hypoparathyroidism; Chronic mucocutaneous candidiasis;