Abstract
In summary, both FBHH and NSHPT represent the phenotypic expression of inactivating mutations of the CaSR in most cases, FBHH usually presenting with mild asymptomatic lifelong hypercalcemia and NSHPT with generally more severe, potentially lethal hypercalcemia, which, in cases of homozygous or compound heterozygous CaSR mutations, carries a high morbidity. Additional molecular studies should elucidate the basis for variations in the phenotypic and biochemical abnormalities observed with both FBHH and NSHPT and identify the disease genes on chromosome 19 that can also cause FBHH in rare cases.
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