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

Article

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

Nature genetics - 1 May 1992

Bruening W, Bardeesy N, Silverman B L, Cohn R A, Machin G A, Aronson A J, Housman D, Pelletier J

Abstract excerpt

Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour. In this report, four individuals with this syndrome are described carrying germline point mutations in the Wilms' tumour suppressor gene, WT1. Three of these mutations were in the zinc finger domains of WT1. The fourth occurred within intron 9, preventing...

Topics

Alternative Splicing
Base Sequence
DNA
DNA Mutational Analysis
Exons
Female
Genes, Wilms Tumor
Genotype
Germ Cells
Humans
Introns
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Phenotype

Syndrome

Urogenital Abnormalities

Urogenital System

Source

Identifiers

PMID: 1302008
DOI: 10.1038/ng0592-144

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1302008-2026-08-29.1. 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.

0

discussions

0

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

Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.PMID 1302008Read ↗

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

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

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

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.Semantic proximity Read ↗

Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?Semantic proximity Read ↗

WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour.Semantic proximity Read ↗

Constitutional WT1 mutations in Wilms' tumor patients.Semantic proximity Read ↗

A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.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 ↗

Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset PhenotypesSemantic proximity Read ↗

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

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