A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis

Min Hu, Jonathan Craig, Neville Howard, Alex Kan, Jeffrey Chaitow, Dianne Little, Stephen I. Alexander

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)1160-1163
Number of pages4
JournalPEDIATRIC NEPHROLOGY
Volume19
Issue number10
DOIs
Publication statusPublished - Oct 2004
Externally publishedYes

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