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: a rare syndrome with WT1 gene mutation in pediatric urology].

Aktuelle Urologie - 1 Jan 2006

Zugor V, Zenker M, Schrott K M, Schott G E

Abstract excerpt

INTRODUCTION: Frasier syndrom is an autosomal dominant, hereditary disease characterized by nephropathy, gonadal dysgenesis and risk of gonadal blastoma in early childhood. To date, in many patients with Frasier syndrome WT1 mutations have been found, occurring exclusively as germ-line mutations of the alternative splicing donor site in intron 9. A Wilms tumor is seen only rarely in this clinical entity. In the...

Read the complete abstract on PubMed

Topics

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

Share to Atrophy
Share to Germ-Line Mutation
Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Introns

Share to Kidney Failure, Chronic

Share to RNA Splice Sites

Share to RNA Splicing Factors

Share to Testis

Source

Identifiers

PMID: 16440249
DOI: 10.1055/s-2005-870912

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology].PMID 16440249Read ↗

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

Frasier syndrome with childhood-onset renal failure.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 ↗

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

Frasier syndrome: four new cases with unusual presentations.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 ↗

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

Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.Semantic proximity Read ↗

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

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

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

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