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Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.

Frontiers in endocrinology - 1 Jan 2023

Ali Dalal S, Marini Francesca, Alsarraf Farah, Alalwani Hatim, Alamri Abdulrahman, Khan Aliya A, Brandi Maria Luisa

Abstract excerpt

Autosomal dominant hypocalcemia (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of parathyroid hormone. The disease is caused by a heterozygous activating mutation of the calcium-sensing receptor (CaSR) gene, encoding a G-Protein-coupled cell membrane sensor of extracellular calcium concentration mainly expressed by parathyroid glands, renal tubules, and...

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Calcium
Gain of Function Mutation
Hypercalciuria
Hypocalcemia
Hypoparathyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Parathyroid Disorders and Treatments

Receptors, Calcium-Sensing

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Identifiers

PMID: 37654565
DOI: 10.3389/fendo.2023.1215036
PMCID: PMC10466028

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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