Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy

B Köhler; V Schumacher; D l'Allemand; B Royer-Pokora; A Grüters

doi:10.1067/mpd.2001.112512

Germline Wilms tumor suppressor gene (WT1) mutation leading to isolated genital malformation without Wilms tumor or nephropathy

J Pediatr. 2001 Mar;138(3):421-4. doi: 10.1067/mpd.2001.112512.

Authors

B Köhler¹, V Schumacher, D l'Allemand, B Royer-Pokora, A Grüters

Affiliation

¹ Children's Hospital, Philipps University, Marburg, Germany.

PMID: 11241055
DOI: 10.1067/mpd.2001.112512

Abstract

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.

Publication types

Case Reports

MeSH terms

Adolescent
Cryptorchidism / genetics*
Genes, Wilms Tumor / genetics*
Humans
Hypospadias / genetics*
Male
Phenotype
Point Mutation*