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Article

WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient.

Pediatric nephrology (Berlin, Germany) - 1 Dec 2007

Li Jianguo, Zhao Dan, Ding Jie, Xiao Huijie, Guan Na, Fan Qingfeng, Zhang Hongwen

Abstract excerpt

We report on a Chinese girl with Frasier syndrome (FS). She presented with steroid-resistant focal segmental glomerulosclerosis (FSGS) and male pseudohermaphroditism. The WT1 IVS 9 + 5 G>A mutation was detected in one allele in the proband. The ratio of +KTS/-KTS was 0.67 in the proband's cDNA. The expression of podocyte molecules (WT1, nephrin, podocin, alpha-actinin 4 and CD2AP) were also investigated in a...

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PMID: 17694336
DOI: 10.1007/s00467-007-0579-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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