This is consistent with case reports in humans, where mutations in the Trpv6 gene lead to the hereditary human disease transient neonatal hyperparathyroidism (HRPTTN, OMIM #618188) associated with skeletal abnormalities, dysplasia, and elevated neonatal parathyroid hormone levels [14,15,16,17,18]. This evidence concerns the gene TRPV6 and hyperparathyroidism, transient neonatal.