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Article

Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis.

Human genetics - 1 Jul 1995

Nordenskjöld A, Fricke G, Anvret M

Abstract excerpt

The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour. These observations prompted us to test whether WT1 mutations are involved in isolated gonadal dysgenesis, being the most severe form of disturbance in gonadal...

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Source

Identifiers

PMID: 7607640
DOI: 10.1007/BF00214195

Genes

SRY

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

Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis.PMID 7607640Read ↗

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.Semantic proximity Read ↗

Gonad development in Drash and Frasier syndromes depends on WT1 mutations.Semantic proximity Read ↗

Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development.Semantic proximity Read ↗

Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.Semantic proximity Read ↗

Abnormal gonadal differentiation in two subjects with ambiguous genitalia, Mullerian structures, and normally developed testes: evidence for a defect in gonadal ridge development.Semantic proximity Read ↗

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

Exclusion of WT1 as a candidate gene for canine SRY-negative XX sex reversal.Semantic proximity Read ↗

Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome.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 ↗

Familial Frameshift SRY Mutation Inherited from a Mosaic Father with Testicular Dysgenesis SyndromeSemantic proximity Read ↗

SRY Mutation and Tumor Formation on the Gonads of XY Pure Gonadal Dysgenesis PatientsSemantic proximity Read ↗

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