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Article

Calcium metabolism and endocrine functions in a family with familial hypocalciuric hypercalcemia.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Dec 2003

Speer G, Tóth M, Niller H-H, Salamon D, Takács I, Miheller P, Patócs A, Nagy Z, Bajnok E, Nyiri P, Lakatos P

Abstract excerpt

OBJECTIVE: We report two Hungarian patients with familial hypocalciuric hypercalcemia (FHH) caused by a mutation of the calcium-sensing receptor (CaSR) at codon 55. The proband and her father were heterozygous for this mutation. DESIGN: We performed detailed clinical and laboratory assessments of this family to characterize the effects of CaSR mutation on several endocrine organs expressing CaSR. RESULTS:...

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Source

Identifiers

PMID: 14714270
DOI: 10.1055/s-2003-44708

Genes

CASR

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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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