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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...
Autores principales: | Tautiva-Rojas, Camila M, Bogarin-Solano, Roberto, Santamaría-Quesada, Carlos, Pacheco-Muñoz, Mariana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
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 |
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