CDC73 and primary hyperparathyroidism: Although definitive genotype–phenotype correlations are yet to be established [4], some studies have suggested that missense mutations are more commonly associated with HPT-JT that lacks typical features (ie isolated primary hyperparathyroidism), whereas mutations that entirely disrupt parafibromin expression present with the classic HPT-JT phenotype encompassing parathyroid, jaw, renal and uterine disease [4, 7, 8].