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

Frasier syndrome with childhood-onset renal failure.

Hormone research - 1 Jan 2001

Buzi F, Mella P, Pilotta A, Felappi B, Camerino G, Notarangelo L D

Abstract excerpt

BACKGROUND: The Wilms' tumour 1 (WT1) gene encodes a protein which is believed to exert transcriptional and tumour-suppressor activities. Mutations of this gene have occasionally been associated with Wilms' tumour (<15% of cases) and, more consistently, with three syndromes characterized by urogenital abnormalities (WAGR, Denys-Drash and Frasier syndrome). SUBJECT/METHOD: A 25-year-old phenotypic female with a...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Disorders of Sex Development
Share to Genes, Wilms Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glomerulonephritis

Share to Karyotyping

Share to Kidney Transplantation

Share to Renal Insufficiency

Share to Streptococcal Infections

Source

Identifiers

PMID: 11509863
DOI: 10.1159/000049974

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frasier syndrome with childhood-onset renal failure.PMID 11509863Read ↗

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

[Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology].Semantic proximity Read ↗

Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.Semantic proximity Read ↗

Clinical and genetic findings of five patients with WT1-related disorders.Semantic proximity Read ↗

A girl with bilateral ovarian tumours: Frasier syndrome.Semantic proximity Read ↗

Expanding the clinical spectrum of Frasier syndrome.Semantic proximity Read ↗

[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report].Semantic proximity Read ↗

WT1-related disorders: more than Denys-Drash syndrome.Semantic proximity Read ↗

Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation.Semantic proximity Read ↗

WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.Semantic proximity Read ↗

A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.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 ↗

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