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Article

A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia.

European journal of endocrinology - 1 May 2012

Falchetti Alberto, Gozzini Alessia, Terranegra Annalisa, Soldati Laura, Vezzoli Giuseppe, Leoncini Gigliola, Giusti Francesca, Franceschelli Francesco, Masi Laura, Tanini Annalisa, Cavalli Loredana, Brandi Maria Luisa

Abstract excerpt

OBJECTIVE: Familial hypocalciuric hypercalcemia (FHH) syndrome is a rare benign condition, inherited as an autosomal dominant trait, in which inactivating mutations of the calcium-sensing receptor (CASR) gene affects the body's ability to regulate calcium homeostasis. Its outcome is featured by increased levels of serum calcium, moderate hypophosphatemia, and inadequately normal or elevated circulating...

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Identifiers

PMID: 22315359
DOI: 10.1530/EJE-11-0953

Genes

CASR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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