Article
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.
Clinical nephrology - 1 Jun 2010
Fujita S, Sugimoto K, Miyazawa T, Yanagida H, Tabata N, Okada M, Takemura T
Abstract excerpt
Wilms' tumor gene (WT1) abnormality leads to various disorders of differentiation as well as renal and urinary system abnormalities. Here we present a case of WT1 abnormality and steroid-resistant nephrotic syndrome in a female infant. The 3-year-old patient was initially diagnosed with proteinuria at an annual mass screening program for children aged three years and was referred to our hospital. She met the...
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