Article
Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
European journal of pediatrics - 1 Dec 2011
Megremis Spyridon, Mitsioni Andromachi, Fylaktou Irene, Tzeli Sofia Kitsiou, Komianou Filadelfia, Stefanidis Constantinos J, Kanavakis Emmanuel, Traeger-Synodinos Joanne
Abstract excerpt
Mutations in the Wilms' tumor suppressor gene 1 (WT1), most commonly within exons 8 or 9 or intron 9, are found in cases with the overlapping conditions of Denys-Drash and Frasier syndromes, as well as in patients with steroid-resistant nephrotic syndrome (SRNS). This study investigated the presence of WT1 gene mutations in cases with childhood SRNS, along with an evaluation of their clinical outcome....
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