Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dyst...
Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants
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England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of this genetic disorder is estimated at 1/90,000-200,000 worldwide and 1/6500-9000 in genetically isolated populations such as Iran. Here,...
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Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants
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TN_cdi_doaj_primary_oai_doaj_org_article_5b6db6f799634bb7b7a4fc7d2be757a3
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5b6db6f799634bb7b7a4fc7d2be757a3
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-021-02170-z
