Linked Life Data

15349765

Source:http://linkedlifedata.com/resource/pubmed/id/15349765

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2004-9-6
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0931-041X
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1160-3
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
A novel mutation of WT1 exon 9 in a patient with Denys-Drash syndrome and pyloric stenosis.
pubmed:affiliation
Centre for Kidney Research, Department of Nephrology, The Children's Hospital at Westmead, New South Wales, Australia.
pubmed:publicationType
Journal Article, Case Reports