%0 Journal Article %T INPP5E基因变异所致Joubert综合征一家系报道<br>Joubert syndrome caused by INPP5E mutations: report of a family %A 陈芳 %A 孙素真 %A 唐洪侠 %A 李荣品 %A 王薇 %A 刘康 %A 杜雅坤< %A br> %A CHEN Fang %A SUN Su-Zhen %A TANG Hong-Xia %A et al %J 中国当代儿科杂志 %D 2018 %R 10.7499/j.issn.1008-8830.2018.10.016 %U http://www.zgddek.com/CN/abstract/abstract14621.shtml