Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes

SJ Marx, D Fraser, A Rapoport - The American journal of medicine, 1985 - Elsevier
Autosomal dominant familial hypocalciuric hypercalcemia was found in a kindred with
neonatal severe primary hyperparathyroldism, previously judged to be an autosomal
recessive trait. Mild hypercalcemia was documented In eight members representing three
generations. Mild hypercalcemia was documented at an age as early as one week. In seven
adults presumed to be heterozygotes, urinary calcium levels were in the same range as for
familial hypocalciuric hypercalcemia. An additional adult member (who previously …