A Novel Homozygous Mutation of AIRE Gene in a Patient With Autoimmune Polyglandular Syndrome Type I

Autoimmune polyglandular syndrome type I (APS1) shows common features such as mucocutaneous candidiasis, hypoparathyroidism, and hypoadrenalism. The clinical manifestations and their onset are highly variable. Besides endocrine abnormalities, patients can present with dental problems, keratoconjunct...

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Detalles Bibliográficos
Autores principales: Tautiva-Rojas, Camila M, Bogarin-Solano, Roberto, Santamaría-Quesada, Carlos, Pacheco-Muñoz, Mariana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039807/
https://www.ncbi.nlm.nih.gov/pubmed/36974230
http://dx.doi.org/10.7759/cureus.35374

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039807/
https://www.ncbi.nlm.nih.gov/pubmed/36974230
http://dx.doi.org/10.7759/cureus.35374

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