家族性ATM基因纯合突变共济失调毛细血管扩张症家系及文献复习  

Ataxia telangiectasia with homozygous mutations in the familial ATM gene and literature review

作　　者：袁洁[1] 王艳艳[1] Yuan Jie;Wang Yanyan(Respiratory Department of Hebei Children's Hospital,Hebei Province,Shijiazhang,050031 China.)

机构地区：[1]河北省儿童医院呼吸科,石家庄050031

出　　处：《疑难病杂志》2023年第12期1323-1326,共4页Chinese Journal of Difficult and Complicated Cases

摘　　要：报道ATM基因突变共济失调毛细血管扩张症1个家系的临床资料,并进行文献复习。A family follow-up and literature review of ataxia telangiectasia with ATM gene mutation were reported.

关 键 词：共济失调毛细血管扩张症 ATM基因 儿童 诊断 治疗 

分 类 号：R543.7[医药卫生—心血管疾病]