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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Carpino, Andrea, Buganza, Raffaele, Matarazzo, Patrizia, Tuli, Gerdi, Pinon, Michele, Calvo, Pier Luigi, Montin, Davide, Licciardi, Francesco, De Sanctis, Luisa
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Case Report
Acesso em linha: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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