Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study.
Jingxuan ShanAndre MegarbaneAziz ChouchaneDeepak KarthikRamzi TemanniAtilio Reyes RomeroHuiying HuaChun PanXixi ChenMurugan SubramanianChadi SaadHamdi MbarekCybel MehawejEliane ChouerySirin W AbuaqelAlexander DömlingSami RemadiCesar YaghiPu LiLotfi ChouchanePublished in: Hepatology (Baltimore, Md.) (2022)
Aberrant FCHSD1 structure and function leads to mTOR pathway overactivation and may cause PSVD.