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Article

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

Genes - 26 Jan 2021

Carpino Andrea, Buganza Raffaele, Matarazzo Patrizia, Tuli Gerdi, Pinon Michele, Calvo Pier Luigi, Montin Davide, Licciardi Francesco, De Sanctis Luisa

Abstract excerpt

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), caused by mutations in the AIRE gene, is mainly characterized by the triad of hypoparathyroidism, primary adrenocortical insufficiency and chronic mucocutaneous candidiasis, but can include many other manifestations, with no currently clear genotype-phenotype correlation. We present the clinical features of two siblings, a male and a female,...

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Identifiers

PMID: 33530632
DOI: 10.3390/genes12020169
PMCID: PMC7912139

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