A novel missense mutation of the WT1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations

Journal of Urology

Volumn 163, Issue 6, 2000, Pages 1857-1858

  Ohta, Shoichiro ^a   Ozawa, Tetsuo ^a   Izumino, Kiyoshi ^a   Sakuragawa, Nobuo ^a   Fuse, Hideki ^a  

^a UNIVERSITY OF TOYAMA   (Japan)

Author keywords

Abnormalities; Genes; Kidney; Kidney failure; Wilms tumors

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CELL PROLIFERATION; DENYS DRASH SYNDROME; EXON; HUMAN; HUMAN TISSUE; KIDNEY DISEASE; MALE; MESANGIUM CELL; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0034079980     PISSN: 00225347     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-5347(05)67560-X     Document Type: Article

References (2)

1. Drash, A., Sherman, F., Hartmann, W. H. et al: A syndrome of pseudohermaphroditism, Wilm's tumor, hypertension, and degenerative renal disease. J Pediatr, 76: 585, 1970
2. Kikuchi, H., Takata, A., Akasaka, Y. et al: Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet, 35: 45, 1998