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Article

A new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons.

The Netherlands journal of medicine - 1 Jul 2017

Schoutteten M K, Bravenboer B, Seneca S, Stouffs K, Velkeniers B

Abstract excerpt

BACKGROUND: Regulation of calcium is mediated by parathyroid hormone (PTH) and 1.25-dihydroxyvitamine D3. The calcium-sensing receptor (CaSR) regulates PTH release by a negative feedback system. Gain-of-function mutations in the CaSR gene reset the calcium-PTH axis, leading to hypocalcaemia. PATIENTS AND METHODS: We analysed a family with hypocalcaemia. The proband was a 47-year-old man (index, patient I1), who...

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PMID: 28741586

Genes

PTH

Variants

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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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