Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.

Abstract

Wilms' tumor type 1 gene (WT1) encodes a zinc-finger transcription factor that plays a key role during genitourinary development and in adult kidney. Mutations in exons 8 and 9 are associated with Denys-Drash Syndrome, whereas those occurring in the intron 9 donor splice site are associated with Frasier Syndrome. Familial cases of WT1 mutations are rare… (More)
DOI: 10.1016/j.bbrc.2013.10.064

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