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Denys-Drash syndrome

Laimutis Kucinskas, Sarūnas Rudaitis, Birute Pundziene, Walter Just
Medicina 2005, 41 (2): 132-4
Constitutional missense mutations in the WT1 gene are usually associated with Denys-Drash syndrome. This rare syndrome is characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. We report on a patient with incomplete Denys-Drash syndrome, which was evident by the clinical data and proved by molecular genetics methods. The patient has the mutation p.R394W in the WT1 gene and clinical symptoms of Denys-Drash syndrome.

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