Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy.
Mutations of the Wilms tumor suppressor gene (WT1 ) have been described only in patients with syndromes associated with urogenital malformation and Wilms tumor or nephropathy. We present a male patient with an isolated genital malformation caused by a WT1 mutation.
Köhler
B
B
Children's Hospital, Philipps University, Marburg, Germany.
Schumacher
V
V
l'Allemand
D
D
Royer-Pokora
B
B
Grüters
A
A
D000293:Adolescent; D003456:Cryptorchidism / Q000235:genetics*; D016162:Genes, Wilms Tumor / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D010641:Phenotype; D017354:Point Mutation