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Article

A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.

Yonsei medical journal - 30 Apr 2006

Woo Seong Ill, Song Hyunju, Song Kyung Eun, Kim Dae Jung, Lee Kwan Woo, Kim Se Joong, Chung Yoon-Sok

Abstract excerpt

Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifesting a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor (CaSR) plays an important role in the regulation of PTH secretion and calcium metabolism. Here we present a family with FBHH of an autosomal...

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Identifiers

PMID: 16642557
DOI: 10.3349/ymj.2006.47.2.255
PMCID: PMC2687637

Genes

PTH

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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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