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Article

Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2002

Yamauchi Mika, Sugimoto Toshitsugu, Yamaguchi Toru, Yano Shozo, Wang Junning, Bai Mei, Brown Edward M, Chihara Kazuo

Abstract excerpt

In this study, we report an 84-year-old female proband in a Japanese family with familial hypocalciuric hypercalcemia (FHH) caused by an R648stop mutation in the extracellular calcium-sensing receptor (CaR) gene. At the age of 71 years, she presented with hypercalcemia (11.4 mg/dl), hypocalciuria (Cca/Ccr = 0.003), hypermagnesemia (2.9 mg/dl), and a high-serum parathyroid hormone (PTH) level (midregion PTH, 3225...

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Identifiers

PMID: 12469911
DOI: 10.1359/jbmr.2002.17.12.2174

Genes

PTH
VDR

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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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