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Article

Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.

The Journal of clinical endocrinology and metabolism - 1 Mar 2002

D'Souza-Li Lilia, Yang Bing, Canaff Lucie, Bai Mei, Hanley David A, Bastepe Murat, Salisbury Sonia R, Brown Edward M, Cole David E C, Hendy Geoffrey N

Abstract excerpt

Familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT), and autosomal dominant hypocalcemia (ADH), in which calcium homeostasis is disordered, are associated with mutations in the calcium-sensing receptor (CASR). Six unrelated kindreds with FHH and/or NSHPT and two unrelated kindreds with ADH were studied. Direct sequence analysis of the exons of the CASR gene identified...

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Identifiers

PMID: 11889203
DOI: 10.1210/jcem.87.3.8280

Genes

CASR

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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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Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.PMID 11889203Read ↗

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