WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin.

doi:10.1007/BF00210593

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Back to search

Article

WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin.

Human genetics - 1 Feb 1994

Nordenskjöld A, Friedman E, Anvret M

Abstract excerpt

Denys-Drash syndrome (DDS) is characterized by early onset nephropathy, pseudohermaphroditism in males and a high risk for developing Wilm's tumour (WT). The exact cause of DDS is unknown but germline mutations in the Wilm's tumour suppressor gene (WT1) have recently been described in the majority of DDS patients studied. These mutations occur de novo and are clustered around the zinc finger (ZF) coding exons of...

Topics

Alleles
Base Sequence
Chromosomes, Human, Pair 11
DNA
DNA Primers
Disorders of Sex Development
Exons
Female
Genes, Wilms Tumor
Humans
Kidney Neoplasms
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Parents

Point Mutation

Syndrome

Wilms Tumor

Zinc Fingers

Source

Open in PubMed

Identifiers

PMID: 8112732
DOI: 10.1007/BF00210593

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8112732-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin.PMID 8112732Read ↗

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

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.Semantic proximity Read ↗

The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.Semantic proximity Read ↗

Inherited WT1 mutation in Denys-Drash syndrome.Semantic proximity Read ↗

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

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

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

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.Semantic proximity Read ↗

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.Semantic proximity Read ↗

WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.Semantic proximity Read ↗

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?Semantic proximity Read ↗

Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.