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Article

Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.

European journal of endocrinology - 1 Aug 2011

Livadariu Elena, Auriemma Renata S, Rydlewski Catherine, Vandeva Silvia, Hamoir Etienne, Burlacu Maria C, Maweja Sylvie, Thonnard Anne S, Betea Daniela, Vassart Gilbert, Daly Adrian F, Beckers Albert

Abstract excerpt

OBJECTIVE: Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CASR) plays a key role in maintaining calcium homeostasis and study of the CASR gene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novel CASR gene mutations that illustrate the varying clinical presentations and discuss these in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21566074
DOI: 10.1530/EJE-11-0121

Genes

CASR
PTH

Variants

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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