Article
A novel WT1 gene mutation in a chinese girl with denys-drash syndrome.
Journal of clinical laboratory analysis - 1 May 2021
Wang Faliang, Cai Jiabin, Wang Jinhu, He Min, Mao Junqing, Zhu Kun, Zhao Manli, Guan Zhonghai, Li Linjie, Jin Hongchuan, Shu Qiang
Abstract excerpt
OBJECTIVE: Denys-Drash syndrome (DDS) is defined by the triad of Wilms tumor, nephrotic syndrome, and/or ambiguous genitalia. Genetic testing may help identify new gene mutation sites and play an important role in clinical decision-making. METHODS: We present a patient with an XY karyotype and female appearance, nephropathy, and Wilms tumor in the right kidney. Genomic DNA was extracted from peripheral blood...
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