B. Kohler et al., Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy, J PEDIAT, 138(3), 2001, pp. 421-424
Mutations of the Wilms tumor suppressor gene (WT1) have been described only
in patients with syndromes associated with urogenital malformation and Wil
ms tumor or nephropathy. We present a male patient with an isolated genital
malformation caused by a WT1 mutation.