S. Della Valentina

Case report: A Newly Identified G-protein Subunit α-11 Loss-of-Function Variant Causing Familial Hypocalciuric Hypercalcemia Type 2 in an Italian Kindred

Background FHH2 is the rarest subtype of familial hypocalciuric hypercalcemia disorders affecting the CaSR signaling pathway. It is caused by heterozygous loss-of-function mutations in the GNA11 gene, encoding Gα11 protein. Only seven GNA11 pathogenic variants have been reported so far. Case description We report the c...