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Article

Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.

Human molecular genetics - 1 Mar 1993

Little M H, Williamson K A, Mannens M, Kelsey A, Gosden C, Hastie N D, van Heyningen V

Abstract excerpt

The triad of nephropathy, partial gonadal dysgenesis and Wilms' tumour (WT) is known as Denys-Drash syndrome (DDS). The WT predisposition gene WT1, which plays a vital role in both genital and renal development, is known to be mutated in DDS patients. The WT1 mutations in these patients are constitutional point mutations clustered in the zinc finger (ZF) encoding exons, particularly the exons encoding ZF2 and...

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Identifiers

PMID: 8388765
DOI: 10.1093/hmg/2.3.259

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion.PMID 8388765Read ↗

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A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome.Semantic proximity Read ↗

Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.Semantic proximity Read ↗

Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.Semantic proximity Read ↗

A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X.Semantic proximity Read ↗

WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome.Semantic proximity Read ↗

Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.Semantic proximity Read ↗

A familial WT1 mutation associated with incomplete Denys-Drash syndrome.Semantic proximity Read ↗

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