Discover Community Create You

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

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

Nature genetics - 1 Dec 1997

Barbaux S, Niaudet P, Gubler M C, Grünfeld J P, Jaubert F, Kuttenn F, Fékété C N, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K

Abstract excerpt

Frasier syndrome (FS) is a rare disease defined by male pseudo-hermaphroditism and progressive glomerulopathy. Patients present with normal female external genitalia, streak gonads and XY karyotype and frequently develop gonadoblastoma. Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by unspecific focal and segmental glomerular sclerosis, progressing to end-stage renal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disorders of Sex Development
Share to DNA-Binding Proteins

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

Share to Genes, Wilms Tumor

Share to Mutation

Share to Ovarian Neoplasms

Share to RNA Splicing

Share to Syndrome

Share to Transcription Factors

Source

Identifiers

PMID: 9398852
DOI: 10.1038/ng1297-467

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.PMID 9398852Read ↗

Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.Semantic proximity Read ↗

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoformsSemantic proximity Read ↗

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

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.Semantic proximity Read ↗

WT1 and glomerular diseases.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 ↗

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 ↗

46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation.Semantic proximity Read ↗

Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria.Semantic proximity Read ↗

High-throughput splicing assays identify known and novel<i>WT1</i>exon 9 variants in nephrotic syndromeSemantic proximity Read ↗

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

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