Article
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
Renal failure - 1 Jan 2011
Yue Zhihui, Pei Yuanyuan, Sun Liangzhong, Huang Weijun, Huang Han, Hu Bin, Yang Juan, Jiang Xiaoyun, Mo Ying, Chen Shumei, Lai Kar Neng, Wang Yiming
Abstract excerpt
Denys-Drash syndrome (DDS) is characterized by early onset of nephropathy, genitalia malformation, and Wilms' tumor, where WT1 is the gene that is mutated in most patients. We report two de novo mutations in WT1 found in two Chinese DDS children. Patient 1 was a boy with complete DDS who was presented with progressive nephropathy, unilateral Wilms' tumor, bilateral cryptorchidism, and renal histology showing...
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