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Article

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

Molecular reproduction and development - 1 Sept 2008

Schumacher Valérie, Gueler Banu, Looijenga Leendert H J, Becker Jan Ulrich, Amann Kerstin, Engers Rainer, Dotsch Joerg, Stoop Hans, Schulz Wolfgang, Royer-Pokora Brigitte

Abstract excerpt

Frasier syndrome (FS) is characterized by chronic renal failure in early adulthood, varying degrees of gonadal dysgenesis, and a high risk for gonadal germ cell malignancies, particularly gonadoblastoma. Although it is known to arise from heterozygous splice mutations in intron 9 of the Wilms' tu...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18271004
DOI: 10.1002/mrd.20889

Genes

SOX9
SRY

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18271004-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome.PMID 18271004Read ↗

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 ↗

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.Semantic proximity Read ↗

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

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.Semantic proximity Read ↗

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

The Wilms tumor gene, Wt1, is required for Sox9 expression and maintenance of tubular architecture in the developing testis.Semantic proximity Read ↗

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

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

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

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