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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2004-10

AUTHORS

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

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. More... »

PAGES

1160-1163

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00467-004-1564-3

DOI

http://dx.doi.org/10.1007/s00467-004-1564-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013265876

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15349765


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