Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

BACKGROUND: Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome Type 1 is a rare autosomal recessive syndrome. The disorder is caused by mutations in the AIRE (AutoImmune Regulator) gene. According to the classic criteria, clinical diagnosis r...

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Detalles Bibliográficos
Autores principales: Fierabracci, Alessandra, Lanzillotta, Mariafrancesca, Vorgučin, Ivana, Palma, Alessia, Katanić, Dragan, Betterle, Corrado
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173724/
https://www.ncbi.nlm.nih.gov/pubmed/34078422
http://dx.doi.org/10.1186/s13052-021-01075-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173724/
https://www.ncbi.nlm.nih.gov/pubmed/34078422
http://dx.doi.org/10.1186/s13052-021-01075-8

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