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Article

Unusual case of neonatal hypercalcemia.

International journal of pediatric otorhinolaryngology - 1 May 2015

Brickman Todd M, Stark Matthew W, Jeyakumar Anita

Abstract excerpt

We present a rare case of neonatal hyperparathyroidism secondary to a homozygous calcium sensing receptor (CASR) mutation, diagnosed by the genetics team. The CASR mutation is a homozygous inactivating mutation at the calcium sensing receptor. Inactivation of the receptor leads to hypercalcemia and activation leads to hypocalcemia. Heterozygous mutations can cause mild forms of asymptomatic hypercalcemia that...

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Share to Receptors, Calcium-Sensing

Source

Identifiers

PMID: 25792032
DOI: 10.1016/j.ijporl.2015.02.029

Genes

CASR

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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