VPS13B基因突变致科恩综合征患儿2例并文献复习  

VPS13B gene mutation causing Cohen syndrome in two children and literature review

作　　者：吕少广 刘芳 刘军 杜志方 阴晓伟 梁如佳 Lyu Shaoguang;Liu Fang;Liu Jun;Du Zhifang;Yin Xiaowei;Liang Rujia(Department of Pediatrics,and Department of Neurology,the 980th Hospital of the People's Liberation Army Joint Service Support Force,Hebei Province,Shijiazhuang 050082,China)

机构地区：[1]解放军联勤保障部队第980医院新生儿科,石家庄050082 [2]解放军联勤保障部队第980医院神经内科,石家庄050082

出　　处：《疑难病杂志》2023年第8期872-873,共2页Chinese Journal of Difficult and Complicated Cases

基　　金：石家庄市科学技术研究与发展计划项目(201460703)。

摘　　要：报道2例VPS13B基因突变致科恩综合征患儿,并进行文献复习。Report 2 cases of children with Cohen syndrome caused by VPS13B gene mutation and review the literature.

关 键 词：科恩综合征 VPS13B基因 基因突变 全面发育迟缓 

分 类 号：R729[医药卫生—儿科]