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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

), while activating mutations cause autosomal dominant hypocalcaemia type-1 (ADH1). In the 25 years that have elapsed since CaSR was cloned, more than 400 different human mutations have been described, and studies of these mutant proteins have provided

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Caroline M Gorvin

CASR cause autosomal dominant hypocalcaemia (ADH) characterised by mild-to-moderate hypocalcaemia and inappropriately low or normal PTH concentrations ( Pearce et al . 1996 b , Hannan & Thakker 2013 ). Up to 50% of patients present with