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Caroline M Gorvin

mutations of the receptor that have disorders of calcium homeostasis. Heterozygous loss-of-function mutations in the CASR lead to the autosomal dominant condition familial hypocalciuric hypercalcaemia (FHH) ( Pollak et al . 1993 ), which is characterised by

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Fadil M Hannan, Valerie N Babinsky and Rajesh V Thakker

mediated by PTH act on the parathyroid glands to induce feedback inhibition of further PTH secretion. Studies of patients and kindreds with familial hypocalciuric hypercalcaemia (FHH) or autosomal dominant hypocalcaemia (ADH) have helped to

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Caroline M Gorvin

confirmed by the discovery that germline-inactivating mutations in the receptor cause two hypercalcaemic disorders, neonatal severe hyperparathyroidism (NSHPT) and the milder familial hypocalciuric hypercalcaemia type-1 (FHH1) ( Pollak et al. 1993 , 1994