Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy.
Lin ZhangXiang ZhangHuijuan XuLulin HuangShanshan ZhangWenjing LiuYeming YangPing FeiShujin LiMu YangPeiquan ZhaoXianjun ZhuZhenglin YangPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Our data suggest that JAG1 is a novel candidate gene for FEVR and pinpoints a potential target for therapeutic intervention.