Certain CNV regions encompass genes involved in the hypoxia inducible factor-1ɑ (HIF-1ɑ), vascular endothelial growth factor (VEGF), and mammalian target of rapamycin (mTOR) signaling pathways (such as VTN, PPFIA4, EPHA3, and EMILIN2), suggesting that these genes may play a role in the pathogenesis of PHACE syndrome [36]. The gene discussed is VEGFA; the disease is PHACE syndrome.