Clinical phenotypes of autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy seen in the Northern Ireland paediatric population over the last 30 years.

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyendocrinopathy syndrome type 1, is a rare autosomal recessive disorder with a variable and evolving phenotypic course. It is caused by mutations in the autoimmune regulator (AIRE) gene. APECED syndr...

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Detalles Bibliográficos
Autores principales: Millar, Sarinda, Carson, Dennis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Ulster Medical Society 2012
Materias:
Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3632819/
https://www.ncbi.nlm.nih.gov/pubmed/23620608

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3632819/
https://www.ncbi.nlm.nih.gov/pubmed/23620608

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