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Article

Neonatal hypercalcemia due to a homozygous mutation in the calcium-sensing receptor: failure of cinacalcet.

Neonatology - 1 Jan 2013

García Soblechero Eduardo, Ferrer Castillo María Teresa, Jiménez Crespo Belén, Domínguez Quintero María Luisa, González Fuentes Concepción

Abstract excerpt

A neonate affected by a novel inactivating mutation in the calcium-sensing receptor (CASR) gene is presented. This mutation is homozygously inherited and has not been previously described. A deletion in exon 5 (c.1392_1404del13) of the gene causes a loss of function of the receptor, which results in neonatal severe hyperparathyroidism and an ensuing extreme hypercalcemia. In a case of homozygosis of the CASR...

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Source

Identifiers

PMID: 23817301
DOI: 10.1159/000350540

Genes

CASR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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