六个Lowe综合征家系七例患儿的临床特征与OCRL1基因突变
张晓滢, 孙良忠, 刘婷, 李敏, 林宏容, 岳智慧, 陈华木, 胡妙月
Clinical features of Lowe syndrome and OCRL1 mutations in seven cases from six families
Zhang Xiaoying, Sun Liangzhong, Liu Ting, Li Min, Lin Hongrong, Yue Zhihui, Chen Huamu, Hu Miaoyue
中华肾脏病杂志 . 2020, (5): 372 -378 .  DOI: 10.3760/cma.j.cn441217-20191115-00071