Article
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis.
Pediatric nephrology (Berlin, Germany) - 1 Oct 2004
Hu Min, Craig Jonathon, Howard Neville, Kan Alex, Chaitow Jeffrey, Little Dianne, Alexander Stephen I
Abstract excerpt
We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.
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