Article
Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene.
Journal of bone and mineral metabolism - 1 Jul 2013
Egan Aoife M, Ryan James, Aziz Mardiana A, O'Dwyer Tadhg P, Byrne Maria M
Abstract excerpt
We describe the clinical and genetic findings in pedigree with a novel mutation in the calcium sensing receptor (CaSR) gene and the unusual coexistence of primary hyperparathyroidism (HPT) and familial hypocalciuric hypercalcaemia (FHH) and its clinical management. The occurrence of both FHH and primary HPT in the same patient has been described rarely. Our pedigree has a novel mutation in the CaSR gene....
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