The Denys-Drash syndrome is an autosomal recessive congenital disorder characterized by the triad of progressive renal disease, male pseudohermaphroditism, and Wilms tumor. The disorder is caused by heterozygous germline missense mutations in the zinc-finger motife (mainly exon 8 or 9) of the WT1 gene.
Fischbach BV et al. (2005) WAGR syndrome: a clinical review of 54 cases.[^]
van Heyningen V et al. (2007) Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.[^]