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Article

Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene.

The Journal of clinical endocrinology and metabolism - 1 Sept 1995

Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T

Abstract excerpt

Familial hypocalciuric hypercalcemia (FHH) is generally characterized by lifelong hypercalcemia without hypercalciuria and is inherited in an autosomal dominant manner. Affected individuals show abnormal parathyroid and renal responses to changes in the extracellular calcium concentration. A Japanese FHH family was screened for mutations in the Ca(2+)-sensing receptor gene by the polymerase chain reaction and...

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Identifiers

PMID: 7673400
DOI: 10.1210/jcem.80.9.7673400

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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