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Article

Persistent hypocalcaemia in a Chinese girl due to a novel de-novo activating mutation of the calcium-sensing receptor gene.

Hong Kong medical journal = Xianggang yi xue za zhi - 1 Apr 2011

Wong W C, Lam C W, Tong S F, Tong C T

Abstract excerpt

A significant proportion of patients formerly diagnosed with idiopathic hypoparathyroidism actually have activating mutation of the calcium-sensing receptor (CaSR) gene. Awareness of the possibility of activating mutation of CaSR gene in patients with sporadic idiopathic hypoparathyroidism is important because of its relevance to clinical management. This report is of a novel activating mutation of the CaSR gene...

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Calcitriol
Child
Hypocalcemia
Mutation
Receptors, Calcium-Sensing

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PMID: 21471599

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