18例Barth综合征患儿的临床和遗传学特征分析

詹湉柳, 严子航, 吴近近, 陈浩, 陈丽君, 陈轶维, 傅立军

Analysis of clinical and genetic characteristics of 18 pediatric patients with Barth syndrome

ZHAN Tianliu, YAN Zihang, WU Jinjin, CHEN Hao, CHEN Lijun, CHEN Yiwei, FU Lijun

图1 18例BTHS患儿的突变类型和分布

Fig 1 Types and distributions of TAZ mutations in 18 BTHS patients