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Article

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

The Journal of clinical endocrinology and metabolism - 1 Sept 2008

Mannstadt Michael, Bertrand Guylène, Muresan Mihaela, Weryha Georges, Leheup Bruno, Pulusani Sirish R, Grandchamp Bernard, Jüppner Harald, Silve Caroline

Abstract excerpt

CONTEXT: Hypoparathyroidism (HP) is characterized by low PTH levels, hypocalcemia, and hyperphosphatemia. Heterozygous mutations in pre-pro-PTH or the calcium-sensing receptor (CaSR) cause some forms of autosomal dominant HP (AD-HP). Furthermore, homozygous mutations in glial cells missing B (GCMB) have been implicated in autosomal recessive HP (AR-HP). In most other HP patients, however, the molecular defect...

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Identifiers

PMID: 18583467
DOI: 10.1210/jc.2007-2167
PMCID: PMC2567849

Genes

PTH

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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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