Angiographically occult cerebral vascular malformation mimicking cortical venous sinus thrombosis: case report

Identification of potential genetic Loci and polygenic risk model for Budd-Chiari syndrome in Chinese population

“…According to a previous report, we found that some BCS patients had vascular abnormalities, 35 which are reminiscent of clinically different vascular malformations (VMs) with thrombotic events. 36 Further research showed that they may be caused by defects in the development of blood vessels that are caused by congenital mutations. 37 Venous thromboembolism (VTE) has also been found to show the same genetic risk factors as BCS, such as Leiden mutation of Factor V, protein C, and protein S. 38 To explore their genetic commonalities, we attempted to predict BCS risk based on reported PRS models or genetic risk information for these diseases.…”