Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy
Familial exudative vitreoretinopathy(FEVR),an inherited eye dis-ease,is characterized by abnormal retinal vascular development,such as neovascularization,vitreous hemorrhage,exudation,and retinal detachment(Criswick and Schepens,1969;Robitaille et al.,2002).FEVR is inherited as autosomal dominant,autosomal reces-sive,and X-linked patterns(de Crecchio et al.,1998).To date,13 genes and 1 locus have been identified to associate with FEVR,including atonal homolog 7(ATOH7),caten in alpha 7(CTNNA1),cat-enin beta 1(CTNNB1),exudative vitreoretinopathy 3(EVR3)on chro-mosome 11p12-13,frizzled 4(FZD4),integrin-linked kinase(ILK),jagged canonical Notch ligand 1(JAG7),kinesin family member 11(KIF11),low-density lipoprotein receptor-related protein 5(LRP5),Norrin(NDP),RCC1 and BTB domain-containing protein 7(RCBTB1),tetraspanin-12(TSPAN12),zinc finger protein 408(ZNF408),and discs large MAGUK scaffold protein 7(DLG1)(Chen et al.,1993;Robitaille et al.,2002;Junge et al.,2009;Panagiotou et al.,2017;Zhang et al.,2021;Zhu et al.,2021).
with、associated、co-receptor、exudative、familial、retinopathy、variants
49
G23;H0-05;G633.41
2022-07-29（万方平台首次上网日期，不代表论文的发表时间）
共5页
590-594
