Ontology type: schema:ScholarlyArticle
2004-10
AUTHORSMin Hu, Jonathon Craig, Neville Howard, Alex Kan, Jeffrey Chaitow, Dianne Little, Stephen I. Alexander
ABSTRACTWe 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. More... »
PAGES1160-1163
http://scigraph.springernature.com/pub.10.1007/s00467-004-1564-3
DOIhttp://dx.doi.org/10.1007/s00467-004-1564-3
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/15349765
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