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Article

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

Hormone research - 1 Jan 2003

Tajima Toshihiro, Sasaki Satoshi, Tanaka Yayoi, Kusunoki Hiroyuki, Nagashima Testuro, Nonomura Katsuya, Fujieda Kenji

Abstract excerpt

OBJECTIVE: Frasier syndrome is characterized by progressive glomerulopathy due to nonspecific focal and segmental glomerulosclerosis (FSGS), 46,XY sex reversal and the development of gonadoblastoma from dysgenetic gonads. Donor splice site heterozygous mutations in intron 9 of the Wilms' tumor ge...

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Source

Identifiers

PMID: 14646409
DOI: 10.1159/000074249

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14646409-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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