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Denys–Drash Syndrome (DDS) is characterized by the triad of congenital or infantile nephropathy (mesangial sclerosis), urogenital malformation and Wilms tumor. Most DDS patients carry WT1 mutations in exon 8 or 9. Here, we report a case of DDS who carried the WT1 missense mutation in exon 9 and presented with early chronic kidney disease and nephrotic syndrome
Denys-Drash Syndrome (DDS) is characterized by the triad of congenital or infantile nephropathy (mesangial sclerosis), urogenital malformation and Wilms tumor. Most DDS patients carry WT1 mutations in exon 8 or 9. Here, we report a case of DDS who carried the WT1 missense mutation in exon 9 and presented with early chronic kidney disease and nephrotic syndrome
Alan : Sağlık Bilimleri
Dergi Türü : Uluslararası
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