Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor
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A de novo heterozygous inactivating mutation of calcium-sensing receptor (CASR) gene typically causes neonatal hyperparathyroidism (NHPT) with moderate hypercalcemia and hyperparathyroid bone disease. We present a case of asymptomatic hypocalciuric hypercalcem... ...
