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Article

Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene.

BMJ case reports - 7 Jun 2020

Gomes Vânia, Silvestre Catarina, Ferreira Florbela, Bugalho Maria João Guerreiro Martins

Abstract excerpt

Autosomal dominant hypocalcaemia is a rare aetiology of hypocalcaemia, caused by gain-of-function mutations of the calcium-sensing receptor (CASR) gene. We present two cases of two asymptomatic women (50-year-old-case 1 and 25-year-old-case 2), referred to our endocrinology department for investigation of hypocalcaemia, hyperphosphatemia and inappropriately low parathormone. Both patients had relatives with the...

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Identifiers

PMID: 32513763
DOI: 10.1136/bcr-2020-234391
PMCID: PMC7282295

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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