We describe a rare case of homozygous inactivating calcium-sensing receptor mutation detected during pregnancy and mimicking primary hyperparathyroidism. In pregnancy, the differential diagnosis of hypercalcaemia requires a cautious approach as physiological changes in calcium homeostasis may mask rare genetic conditions.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628236PMC
http://dx.doi.org/10.1002/ccr3.1074DOI Listing

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