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Article

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.

The Journal of clinical endocrinology and metabolism - 1 Apr 2010

Guarnieri Vito, Canaff Lucie, Yun Francisco H J, Scillitani Alfredo, Battista Claudia, Muscarella Lucia A, Wong Betty Y L, Notarangelo Angelantonio, D'Agruma Leonardo, Sacco Michele, Cole David E C, Hendy Geoffrey N

Abstract excerpt

CONTEXT: Inactivating mutations of the calcium-sensing receptor (CASR) are implicated in different hypercalcemic syndromes, including familial hypocalciuric hypercalcemia (FHH), primary hyperparathyroidism (PHPT), and familial isolated hyperparathyroidism (FIHP). However, molecular diagnostics ap...

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Source

Identifiers

PMID: 20164288
DOI: 10.1210/jc.2008-2430

Genes

CASR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20164288-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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