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Article

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

The Journal of clinical investigation - 1 Oct 2001

Ding C, Buckingham B, Levine M A

Abstract excerpt

Hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia, and absent or markedly reduced circulating concentrations of parathyroid hormone. The transcription factor GCMB is predominantly, if not exclusively, expressed in parathyroid cells and is critical for development of the parathyroid glands in mice. Thus, in the present study we examined the GCMB gene, mapped to 6p23-24, as a candidate for...

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Identifiers

PMID: 11602629
DOI: 10.1172/JCI13180
PMCID: PMC209530

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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