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Article

Divergent clinical presentations and management of calcium-sensing receptor (CaSR) mutations: a case report.

Journal of medical case reports - 25 Apr 2026

Kopanos Stylianos, Feldkamp Joachim

Abstract excerpt

BACKGROUND: Primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia (FHH) are key differential diagnoses in parathyroid hormone (PTH)-mediated hypercalcemia. While PHPT often arises from single-gland parathyroid adenomas, CaSR mutations are typically associated with FHH. However, the coexistence of CaSR mutations and PHPT represents an unusual presentation, and the variability in their...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42035203
DOI: 10.1186/s13256-026-06062-3
PMCID: PMC13109886

Genes

PTH
TG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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