改良高通量测序分析策略诊断儿童期发病亨廷顿舞蹈病及其临床特征分析
徐诗怡, 刘怡, 余永国, 干静, 肖冰, 孙昱
Optimized high-throughput sequencing for diagnosing childhood-onset Huntington's disease and analysis of clinical features
XU Shiyi, LIU Yi, YU Yongguo, GAN Jing, XIAO Bing, SUN Yu
临床儿科杂志 . 2025, (6): 445 -451 .  DOI: 10.12372/jcp.2025.24e1388