Identification one case with Joubert syndrome caused by INPP5E mutations by targetedexome sequencing
1. National Research Institute for Family Planning，Beijing， 100081; 2.Beijing Children’s Hospital, Capital Medical University; 3. Graduate School of Peking Union Medical College
罗敏娜1刘志敏2沈玥1王昊2曹宗富1陈西华1马斯禹1,3高华方1. 目标外显子组捕获测序发现INPP5E突变致Joubert综合征1例[J]. 中国计划生育学杂志, 2018, 26(5): 400-.
LUO Minna1, LIU Zhimin2，SHEN Yue1, WANG Hao2, CAO Zongfu1, CHEN Xihua1,MA Siyu1,3,GAO Huafang1, XU Baoping2, PENG Yun2, MA Xu1*. Identification one case with Joubert syndrome caused by INPP5E mutations by targetedexome sequencing. 中国计划生育学杂志, 2018, 26(5): 400-.
