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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Detalles Bibliográficos
Autores principales: Carpino, Andrea, Buganza, Raffaele, Matarazzo, Patrizia, Tuli, Gerdi, Pinon, Michele, Calvo, Pier Luigi, Montin, Davide, Licciardi, Francesco, De Sanctis, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912139/
https://www.ncbi.nlm.nih.gov/pubmed/33530632
http://dx.doi.org/10.3390/genes12020169

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7912139/
https://www.ncbi.nlm.nih.gov/pubmed/33530632
http://dx.doi.org/10.3390/genes12020169

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