Frasier syndrome

For the anatomical abnormality observed in 1965, see Fraser syndrome.
Frasier syndrome
SpecialtyEndocrinology, obstetrics and gynaecology, urology, medical genetics Edit this on Wikidata

Frasier syndrome is a urogenital anomaly associated with the WT1 (Wilms tumor 1 gene) gene.[1][2][3]

It was first characterized in 1964.[4]

  1. ^ 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.
  2. ^ Reference, Genetics Home. "Frasier syndrome". Genetics Home Reference. Retrieved 2018-04-17.
  3. ^ "Frasier syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2018-04-17.
  4. ^ Frasier, SD; Bashore, 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.