Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2021.736240
Abstract: Mutations in CYP24A1 (vitamin D 24-hydroxylase) and SLC34A1 (renal phosphate transporter NPT2a) cause autosomal recessive Infantile Hypercalcemia type 1 and 2, illustrating links between vitamin D and phosphate metabolism. Patients may present with hypercalciuria and… read more here.
Keywords: overlapping phenotypes; slc34a1; mutations cyp24a1; slc34a1 slc34a3 ... See more keywords