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

Figure 1

(a) Sequences of the CYP24A1 exon 2 obtained by proband and her parents. CYP24A1 gene amplification and sequencing were performed as reported. Sequences of the exon 2 obtained by proband and her parents were shown. Arrows indicate the position of c.428_430delAAG heterozygous and homozygous variant in the parents and the proband, respectively. (b) Family tree.

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