An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homzoygous inactivating mutation of calcium-sensing receptor. - Chikatsu,N.; Fukumoto,S.; Suzawa,M.; Tanaka,Y.; Takeuchi,Y.; Takeda,S.; Tamura,Y.; Matsumoto,T.; Fujita,T. (Clinical Endocrinology, 1999)