Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature.

Daniele CappellaniAlessandro BrancatellaMartin KaufmannAngelo MinucciEdda VignaliDomenico CanaleElisa De PaolisEttore CapoluongoFilomena CetaniGlenville JonesClaudio Marcocci

Published in: Case reports in endocrinology (2019)

CYP24A1 gene mutations should be considered in cases of PTH-independent hypercalcemia, once that more common causes (hypercalcemia of malignancy, granulomatous diseases, and vitamin D intoxication) have been ruled out.

Keyphrases

genome wide
copy number
gene expression
dna methylation
transcription factor
systemic sclerosis