Article
Two cases of isolated diffuse mesangial sclerosis with WT1 mutations.
Journal of Korean medical science - 1 Feb 2006
Hahn Hyewon, Cho Young Mi, Park Young Seo, You Han Wook, Cheong Hae Il
Abstract excerpt
Here we report two cases of isolated diffuse mesangial sclerosis (IDMS) with early onset end-stage renal failure. These female patients did not show abnormalities of the gonads or external genitalia. Direct sequencing of WT1 PCR products from genomic DNA identified WT1 mutations in exons 8 (366 Arg>His) and 9 (396 Asp>Tyr). These mutations have been reported previously in association with Denys-Drash syndrome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
