Article
[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report].
Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego - 1 Jun 2009
Wasilewska Anna, Zoch-Zwierz Walentyna, Tenderenda Edyta, Rybi-Szumińska Agnieszka, Kołodziejczyk Zbigniew
Abstract excerpt
Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism and gonadal dysgenesis. It is caused by mutations in intron 9 of the WT1 gene. Because of its rarity there is limited literature available on the diagnosis and treatment of this syndrome. The aim of the study was to present the clinicopathological findings and molecular analysis of phenotypically...
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