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Article

GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.

The Journal of clinical endocrinology and metabolism - 1 May 2005

Thomée Caroline, Schubert Steffen W, Parma Jasmine, Lê Phu Quoc, Hashemolhosseini Said, Wegner Michael, Abramowicz Marc J

Abstract excerpt

Isolated hypoparathyroidism is an uncommon metabolic disorder characterized by hypocalcemia and hyperphosphatemia, with absent or low levels of PTH. It may present as an apparently sporadic disorder or may be transmitted in families as a genetic trait. Mutations of the calcium-sensing receptor ge...

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Source

Identifiers

PMID: 15728199
DOI: 10.1210/jc.2004-2450

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15728199-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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