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Article

Expanding the clinical spectrum of Frasier syndrome.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Gwin Katja, Cajaiba Mariana M, Caminoa-Lizarralde Alejandra, Picazo Maria L, Nistal Manuel, Reyes-Múgica Miguel

Abstract excerpt

Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism, and gonadal dysgenesis with increased risk of gonadoblastoma and malignant germ cell tumors. It is caused by mutations in the donor splice site in intron 9 of the WT1 gene. However, because of its rarity there is limited literature available on the precise spectrum and recommended treatment...

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Share to Amenorrhea
Share to Chromosomes, Human, Y

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, Wilms Tumor

Share to Glomerulosclerosis, Focal Segmental

Share to Kidney Failure, Chronic

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Source

Identifiers

PMID: 17378674
DOI: 10.2350/07-01-0209.1

Provenance

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.

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Expanding the clinical spectrum of Frasier syndrome.PMID 17378674Read ↗

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

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

Frasier syndrome: four new cases with unusual presentations.Semantic proximity Read ↗

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

Frasier syndrome, a potential cause of end-stage renal failure in childhood.Semantic proximity Read ↗

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

Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness.Semantic proximity Read ↗

Frasier syndrome: a rare cause of delayed puberty.Semantic proximity Read ↗

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Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?Semantic proximity Read ↗

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