Article
Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.
The Journal of pediatrics - 1 Jul 2016
Li Fucheng, Yue Zhihui, Xu Tingting, Chen Minghui, Zhong Liangying, Liu Ting, Jing Xiangyi, Deng Jia, Hu Bin, Liu Yuling, Wang Haiyan, Lai Kar N, Sun Liangzhong, Liu Jinsong, Maxwell Patrick H, Wang Yiming
Abstract excerpt
OBJECTIVE: To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses. STUDY DESIGN: Using a modified protocol, we screened 1288 individuals with proteinuria. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1. We also analyzed 16 available...
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