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.
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)
出处
《疑难病杂志》
CAS
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)。