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Article

Two novel mutations causing familial benign hypocalciuric hypercalcaemia in three Scottish families.

Scottish medical journal - 1 Nov 2009

Hinnie J, Vass J K, Rolfe E, Marchesi V A, MacFarlane F C, McShea L, McKibbin C C, Henderson P, Gaffney D

Abstract excerpt

BACKGROUND AND AIMS: Familial benign hypocalciuric hypercalcaemia (FBHH) is a benign autosomal dominantly inherited condition which results in elevated serum calcium and low urinary calcium. This condition is of clinical interest because it can be mistakenly diagnosed as primary hyperparathyroidism (PHP). In most cases FBHH can be shown to be due to a mutation in the calcium sensing receptor (CASR) gene and we...

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Source

Identifiers

PMID: 20034274
DOI: 10.1258/rsmsmj.54.4.11

Genes

CASR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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