疑难病杂志2023，Vol.22Issue(12)：1323-1326,4.DOI:10.3969/j.issn.1671-6450.2023.12.017
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
袁洁 1王艳艳1
作者信息
- 1. 050031 石家庄,河北省儿童医院呼吸科
- 折叠
摘要
Abstract
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Key words
Ataxia telangiectasia/ATM gene/Children/Diagnosis/Treatment分类
临床医学引用本文复制引用
袁洁,王艳艳..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[J].疑难病杂志,2023,22(12):1323-1326,4.
