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Article

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.

Clinical journal of the American Society of Nephrology : CJASN - 1 Apr 2010

Benetti Elisa, Caridi Gianluca, Malaventura Cristina, Dagnino Monica, Leonardi Emanuela, Artifoni Lina, Ghiggeri Gian Marco, Tosatto Silvio C E, Murer Luisa

Abstract excerpt

BACKGROUND AND OBJECTIVES: Wilms tumor-suppressor gene-1 (WT1) plays a key role in kidney development and function. WT1 mutations usually occur in exons 8 and 9 and are associated with Denys-Drash, or in intron 9 and are associated with Frasier syndrome. However, overlapping clinical and molecular features have been reported. Few familial cases have been described, with intrafamilial variability. Sporadic cases...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20150449
DOI: 10.2215/CJN.05670809
PMCID: PMC2849688

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Source receipt: pubmed, retrieved 7 Sept 2026.

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