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Article

A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism.

Medical hypotheses - 1 Jan 2006

Sticht Heinrich, Hashemolhosseini Said

Abstract excerpt

Hypoparathyroidism, either of acquired or inherited origin, is a heterogenous group of human disorders caused by a defective calcium homeostasis clinically known as hypocalcemia and hyperphosphatemia. Two mutations (R47L, G63S) in the DNA binding domain of the parathyroid-specific transcription factor GCMB have been reported to be linked to hypoparathyroidism. Both mutations cause a loss of transactivation either...

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Identifiers

PMID: 16697534
DOI: 10.1016/j.mehy.2006.01.062

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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