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Published in 2022 at "Nutrients"
DOI: 10.3390/nu14153221
Abstract: Infantile hypercalcemia type 1 (HCINF1), previously known as idiopathic infantile hypercalcemia, is caused by mutations in the 25-hydroxyvitamin D 24-hydroxylase gene, CYP24A1. The R396W loss-of-function mutation in CYP24A1 is the second most frequent mutated allele…
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Keywords:
hypercalcemia type;
infantile hypercalcemia;
cyp24a1 r396w;
hypercalcemia ... See more keywords