Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of endocrinology"
DOI: 10.1530/eje-21-0713
Abstract: BACKGROUND AND OBJECTIVES CYP24A1 encodes a 24-hydroxylase involved in vitamin D catabolism, whose loss-of-function results in vitamin D-dependent hypercalcemia. Since the identification of CYP24A1 variants as a cause of idiopathic infantile hypercalcemia (IIH), a large… read more here.
Keywords: due cyp24a1; hypercalcemia due; cyp24a1; cyp24a1 variants ... See more keywords