Article
Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Aug 2001
Swiatecka-Urban A, Mokrzycki M H, Kaskel F, Da Silva F, Denamur E
Abstract excerpt
We report the identification of a novel Wilms tumor suppressor gene mutation in a 5-month-old girl who presented with unilateral Wilms tumor (WT) and renal diffuse mesangial sclerosis typical of Denys-Drash syndrome (DDS). The patient did not have ambiguous genitalia and the karyotype (by amniocentesis) was 46, XX. A de novo constitutional heterozygous mutation in WT1 gene exon 9 coding for the third zinc-finger...
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