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Article

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.

Kidney international - 1 Jun 1998

Schumacher V, Schärer K, Wühl E, Altrogge H, Bonzel K E, Guschmann M, Neuhaus T J, Pollastro R M, Kuwertz-Bröking E, Bulla M, Tondera A M, Mundel P, Helmchen U, Waldherr R, Weirich A, Royer-Pokora B

Abstract excerpt

We investigated 17 children with nephrotic syndrome (NS) of early onset (14 aged < 1 year) and rapid progression to end-stage renal disease for the presence of mutations in the Wilms' tumor suppressor gene WT1 on chromosome 11. In eight children (7 genotypic males) an association with Wilms' tumor and/or ambiguous genitalia (Denys-Drash syndrome) was observed. In these eight and two additional female patients...

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Identifiers

PMID: 9607189
DOI: 10.1046/j.1523-1755.1998.00948.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.PMID 9607189Read ↗

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.Semantic proximity Read ↗

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

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

Nephrotic syndrome and end-stage renal disease with WT1 mutation detected at 3 years.Semantic proximity Read ↗

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

Novel WT1 and ACTN4 co-mutations in a patient with Denys-Drash syndrome and an atypical, potentially attenuated presentation of nephropathy: a case report.Semantic proximity Read ↗

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

Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.Semantic proximity Read ↗

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.Semantic proximity Read ↗

WT1 exon 10 missense variant in a pediatric patient with focal segmental glomerular sclerosis with embryonal hyperplasiaSemantic proximity Read ↗

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

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

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