Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with Gene Mutation in Codon Arg15His.

Familial hypocalciuric hypercalcemia (FHH) is usually a benign condition divided into three types. FHH-3 occurs in about 20% of the cases and is caused due to missense mutations in (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15).