Article
Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene.
Annals of clinical biochemistry - 1 May 2011
Schouten Belinda J, Raizis Anthony M, Soule Steven G, Cole David R, Frengley Patrick A, George Peter M, Florkowski Christopher M
Abstract excerpt
We present four cases with clinical and biochemical hypocalcaemia and evidence supportive of hypoparathyroidism. One case had been previously ascribed a diagnosis of idiopathic hypoparathyroidism. Following the detection of relative hypercalciuria, all cases were found to have autosomal dominant hypocalcaemia with hypercalciuria and mutations of the calcium-sensing receptor gene, of which two were novel....
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