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Article

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.

Journal of the American Society of Nephrology : JASN - 1 Oct 1999

Demmer L, Primack W, Loik V, Brown R, Therville N, McElreavey K

Abstract excerpt

The description of Frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma. Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome. The WT1 gene, which is essential for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10505699
DOI: 10.1681/ASN.V10102215

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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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.PMID 10505699Read ↗

46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation.Semantic proximity Read ↗

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.Semantic proximity Read ↗

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

Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.Semantic proximity Read ↗

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoformsSemantic proximity Read ↗

WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.Semantic proximity Read ↗

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

Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.Semantic proximity Read ↗

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

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

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

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