|Classification and external resources|
It was first characterized in 1964.
Frasier syndrome presents at birth with male pseudohermaphroditism (the external genitalia have a female appearance despite an XY genotype), streak gonads and progressive glomerulonephropathy (focal segmental glomerulosclerosis). Patients are also at increased risk of genito-urinary tumors (usually gonadoblastoma).
The glomerulonephropathy presents later than in Denys-Drash syndrome, and the tumour risk phenotype is different - whilst DDS is associated with Wilms' tumour, Frasier syndrome is associated with gonadoblastoma. Differentiating between the two syndromes can be challenging.
- Klamt B, Koziell A, Poulat F, et al. (April 1998). "Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms". Hum. Mol. Genet. 7 (4): 709–14. doi:10.1093/hmg/7.4.709. PMID 9499425.
- FRASIER SD, BASHORE RA, MOSIER HD (May 1964). "GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS". J. Pediatr. 64 (5): 740–5. doi:10.1016/S0022-3476(64)80622-3. PMID 14149008.
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