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Article

Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.

Clinical endocrinology - 1 Jul 2011

Frank-Raue Karin, Leidig-Bruckner Gudrun, Haag Christine, Schulze Egbert, Lorenz Angela, Schmitz-Winnenthal Hubertus, Raue Friedhelm

Abstract excerpt

OBJECTIVE: Primary hyperparathyroidism (HPT) is characterised by autonomous secretion of PTH from enlarged parathyroid glands leading, in most patients, to asymptomatic hypercalcaemia. Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene; it is characterised by lifelong and usually asymptomatic hypercalcaemia....

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Source

Identifiers

PMID: 21521328
DOI: 10.1111/j.1365-2265.2011.04059.x

Genes

PTH

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