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Article

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.

American journal of human genetics - 4 Jun 2020

Dershem Ridge, Gorvin Caroline M, Metpally Raghu P R, Krishnamurthy Sarathbabu, Smelser Diane T, Hannan Fadil M, Carey David J, Thakker Rajesh V, Breitwieser Gerda E

Abstract excerpt

The calcium-sensing receptor (CaSR) regulates serum calcium concentrations. CASR loss- or gain-of-function mutations cause familial hypocalciuric hypercalcemia type 1 (FHH1) or autosomal-dominant hypocalcemia type 1 (ADH1), respectively, but the population prevalence of FHH1 or ADH1 is unknown. Rare CASR variants were identified in whole-exome sequences from 51,289 de-identified individuals in the DiscovEHR...

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Identifiers

PMID: 32386559
DOI: 10.1016/j.ajhg.2020.04.006
PMCID: PMC7273533

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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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