Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes

Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes

Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), caused by mutations in the <i>AIRE</i> gene, is mainly characterized by the triad of hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidiasis, but can include many other manifes...

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Bibliographic Details
Main Authors: Andrea Carpino, Raffaele Buganza, Patrizia Matarazzo, Gerdi Tuli, Michele Pinon, Pier Luigi Calvo, Davide Montin, Francesco Licciardi, Luisa De Sanctis
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Genes
Subjects:
Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED)
AIRE gene
genotype–phenotype correlation
Online Access:https://www.mdpi.com/2073-4425/12/2/169

Internet

https://www.mdpi.com/2073-4425/12/2/169

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