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Article

Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report.

JPMA. The Journal of the Pakistan Medical Association - 1 Jan 2024

Ko Yun Jung, Rhie Seonkyeong, Baek Jihyun, Seo Go Hun, Lee So-Young

Abstract excerpt

Focal s egmental glomerulosclerosis (F SGS) can cause protei nuria and loss o f k idney fun ction, leading to e ndstage renal di s ease (ESRD). Podocyte injury is the ce ntral pathophysiologi cal mechanis m of hereditary FSGS. Numerous mutations in genes e ncoding or affe cting the transcriptional regulation of podocyte cell compar tments have been detected in patients with genetic FSGS. Herein, we report a rare...

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Share to WT1 Proteins
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Share to Glomerulosclerosis, Focal Segmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Source

Identifiers

PMID: 38219185
DOI: 10.47391/JPMA.8251

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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