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pubmed-article:15349765pubmed:abstractTextWe 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.lld:pubmed
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pubmed-article:15349765pubmed:dateRevised2010-11-18lld:pubmed
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pubmed-article:15349765pubmed:articleTitleA novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis.lld:pubmed
pubmed-article:15349765pubmed:affiliationCentre for Kidney Research, Department of Nephrology, The Children's Hospital at Westmead, New South Wales, Australia.lld:pubmed
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