Article
Absence of pathogenic calcium sensing receptor mutations in sporadic idiopathic hypoparathyroidism.
Clinical endocrinology - 1 Sept 2006
Sarin Ritu, Tomar Neeraj, Ray Debarti, Gupta Nandita, Sharma Yagya Dutta, Goswami Ravinder
Abstract excerpt
BACKGROUND: Sporadic idiopathic hypoparathyroidism (SIH) is the most common cause of hypoparathyroidism. While calcium sensing receptor (CaSR) autoantibodies are observed in 49% of cases, aetiopathogenetic mechanisms in others are under investigation. Mutations in the PTH gene including its 3' untranslated region, autoimmune regulator gene and lead CTLA-4 gene single nucleotide polymorphism (SNPs) are not...
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