Per M Knappskog

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BACKGROUND Autoimmune polyendocrine syndrome type I (APS I) is a monogenic disease affecting endocrine glands and other organs due to mutations of the autoimmune regulator (AIRE) gene. There is a wide variability in clinical phenotypes in patients with APS I, which makes the diagnosis a challenge. OBJECTIVE To screen for APS I among Slovakian patients(More)
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