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Article

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia.

Journal of clinical research in pediatric endocrinology - 1 Sept 2016

Papadopoulou Anna, Gole Evangelia, Melachroinou Katerina, Meristoudis Christos, Siahanidou Tania, Papadimitriou Anastasios

Abstract excerpt

Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant disorder, associated with inactivating mutations of the calcium-sensing receptor (CaSR). To evaluate the functional significance of a CaSR mutation, identified in a young infant who presented with hypercalcemia and hypocalciuria. The CaSR gene coding sequences were analyzed by polymerase chain reaction amplification and direct sequencing...

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Identifiers

PMID: 27087013
DOI: 10.4274/jcrpe.2800
PMCID: PMC5096500

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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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