Associated Papers
Pediatric hypoparathyroidism: etiological and clinical evaluation in a tertiary center.
Kocabey Sütçü Z et al.
Endocrine, 2025
Case Report: Clinical and molecular features of a radiosensitive autoimmune polyendocrine syndrome type 1 patient with oral carcinoma.
Chikhaoui A et al.
Frontiers in Genetics, 2025
Early-onset hypoparathyroidism and chronic keratitis revealing APECED.
Mezgueldi E et al.
Clinical Case Reports, 2015
[Autoimmune polyglandular syndrome type IIID in a girl].
Chen TT et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2012
Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence.
Stolarski B et al.
Clinical Genetics, 2006
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
Ilmarinen T et al.
Human Mutation, 2005
AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype.
Halonen M et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
APECED mutations in the autoimmune regulator (AIRE) gene.
Heino M et al.
Human Mutation, 2001
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