Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-3-19
pubmed:abstractText
Denys-Drash syndrome and Frasier syndrome are two related conditions caused by mutations of the Wilms tumor gene, WT1. Both syndromes are characterized by male pseudohermaphrodism, a progressive glomerulopathy, and the development of genitourinary tumors. This study examines three girls with steroid-resistant nephrotic syndrome related to mutations in the WT1 gene, but with normal 46, XX karyotype and normal female phenotype. WT1 mutation analysis should be routinely done in females with steroid-resistant nephrotic syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
167
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
579-81
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
WT1 gene mutations in three girls with nephrotic syndrome.
pubmed:affiliation
Department of Pediatric Nephrology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium. khalid.ismaili@huderf.be
pubmed:publicationType
Journal Article, Case Reports