WT1 splice site mutation in a 46,XX female with minimal‐change nephrotic syndrome and Wilms' tumour

• Published in: Nephrology, dialysis, transplantation Vol. 18; no. 4; pp. 823 - 825
• Main Authors: Loirat, Chantal, André, Jean Luc, Champigneulle, Jacqueline, Acquaviva, Cécile, Chantereau, Dominique, Bourquard, Rosine, Elion, Jacques, Denamur, Erick
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01-04-2003
• Subjects: Alternative Splicing; Biological and medical sciences; Child, Preschool; Denys-Drash Syndrome - complications; Denys-Drash Syndrome - genetics; Denys–Drash syndrome; Disease Progression; Female; Follow-Up Studies; Frasier syndrome; Glomerulonephritis; Humans; Kidney Neoplasms - complications; Kidney Neoplasms - genetics; Kidney Neoplasms - surgery; Kidneys; Medical sciences; Mutation; Nephrectomy; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; Nephrotic Syndrome - genetics; Risk Assessment; Tumors of the urinary system; Wilms Tumor - complications; Wilms Tumor - genetics; Wilms Tumor - surgery; Wilms' tumour; WT1 gene; WT1 Proteins - genetics; Human; Glomerulonephritis; Kidney disease; Frasier syndrome; Urinary system disease; WT1 gene; Nephrotic syndrome; Malignant tumor; Genetic determinism; Differential diagnostic; Genetic disease; Case study; Denys-Drash syndrome; Wilms' tumour; Wilms tumor; Female; Mutation; Child
• ISSN: 0931-0509; 1460-2385
• DOI: 10.1093/ndt/gfg041