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Article

[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].

Nihon rinsho. Japanese journal of clinical medicine - 1 Feb 2002

Watanabe Sumiyo, Fukumoto Seiji

Abstract excerpt

Calcium-sensing receptor (CaSR) plays an essential role in regulating secretion of parathyroid hormone. After the identification of CaSR, some cases of familial hypocalciuric hypercalcemia (FHH) were shown to have heterozygous inactivating mutations of CaSR. However, linkage study showed that there are additional two genetic loci for FHH in addition to the chromosomal location of CaSR gene. Furthermore, one...

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PMID: 11857921

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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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