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

WT1 gene mutations in three girls with nephrotic syndrome.

European journal of pediatrics - 1 May 2008

Ismaili Khalid, Verdure Véronique, Vandenhoute Katherina, Janssen Françoise, Hall Michelle

Abstract excerpt

Denys-Drash syndrome and Frasier syndrome are two related conditions caused by mutations of the Wilms tumor gene, WT1. Both syndromes are characterized by male pseudohermaphrodism, a progressive glomerulopathy, and the development of genitourinary tumors. This study examines three girls with steroid-resistant nephrotic syndrome related to mutations in the WT1 gene, but with normal 46, XX karyotype and normal...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool
Share to DNA

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

Share to DNA Mutational Analysis

Share to Follow-Up Studies

Share to Genes, Wilms Tumor

Share to Infant

Share to Nephrotic Syndrome

Source

Identifiers

PMID: 17541636
DOI: 10.1007/s00431-007-0514-z

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

WT1 gene mutations in three girls with nephrotic syndrome.PMID 17541636Read ↗

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

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

Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy.Semantic proximity Read ↗

Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome.Semantic proximity Read ↗

Clinical characteristics and WT1 genetic analysis of patients with steroid resistant nephrotic syndrome accompanied with genitourinary malformations.Semantic proximity Read ↗

A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.Semantic proximity Read ↗

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

A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male.Semantic proximity Read ↗

Genotype-phenotype associations in WT1 glomerulopathy.Semantic proximity Read ↗

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.Semantic proximity Read ↗

Wilms' tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Clinical spectrum of Denys-Drash and Frasier syndrome.Semantic proximity Read ↗

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