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 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 cu...

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Bibliografiske detaljer
Udgivet i:Genes (Basel)
Main Authors: Carpino, Andrea, Buganza, Raffaele, Matarazzo, Patrizia, Tuli, Gerdi, Pinon, Michele, Calvo, Pier Luigi, Montin, Davide, Licciardi, Francesco, De Sanctis, Luisa
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2021
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7912139/
https://ncbi.nlm.nih.gov/pubmed/33530632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12020169
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