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Article

A homozygous CaSR mutation causing a FHH phenotype completely masked by vitamin D deficiency presenting as rickets.

The Journal of clinical endocrinology and metabolism - 1 Jun 2014

Szczawinska Dorothea, Schnabel Dirk, Letz Saskia, Schöfl Christof

Abstract excerpt

CONTEXT: Heterozygous inactivating calcium-sensing receptor (CaSR) mutations lead to familial hypocalciuric hypercalcemia (FHH), whereas homozygous mutations usually cause neonatal severe hyperparathyroidism. OBJECTIVE: The objective of the study was to investigate the pathophysiological mechanisms of a homozygous inactivating CaSR mutation identified in a 16-year-old female. DESIGN: Clinical, biochemical, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypercalcemia

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Share to Receptors, Calcium-Sensing

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Source

Identifiers

PMID: 24517148
DOI: 10.1210/jc.2013-3593

Genes

PTH

Provenance

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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