Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

Abstract Background Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome Type 1 is a rare autosomal recessive syndrome. The disorder is caused by mutations in the AIRE (AutoImmune Regulator) gene. According to the classic criteria, clinical dia...

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Main Authors: Alessandra Fierabracci (Author), Mariafrancesca Lanzillotta (Author), Ivana Vorgučin (Author), Alessia Palma (Author), Dragan Katanić (Author), Corrado Betterle (Author)
Format: Book
Published: BMC, 2021-06-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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