A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy
Nephrol Dial Transplant
.
2006 Feb;21(2):518-21.
doi: 10.1093/ndt/gfi285.
Epub 2005 Nov 22.
Authors
Valérie Schumacher
1
,
Julia Thumfart
,
Matthias Drechsler
,
Maximillian Essayie
,
Brigitte Royer-Pokora
,
Uwe Querfeld
,
Dominik Müller
Affiliation
1
Institute of Human Genetics, Heinrich-Heine University Düsseldorf , Germany.
PMID:
16303781
DOI:
10.1093/ndt/gfi285
No abstract available
Publication types
Case Reports
MeSH terms
Atrophy
Child, Preschool
Corpus Callosum / pathology*
Denys-Drash Syndrome / genetics*
Follow-Up Studies
Humans
Infant
Karyotyping
Male
Mutation, Missense*
WT1 Proteins / genetics*
Substances
WT1 Proteins