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Article

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

Clinical nephrology - 1 Jul 2012

Büscher Anja K, Konrad Martin, Nagel Mato, Witzke Oliver, Kribben Andreas, Hoyer Peter F, Weber Stefanie

Abstract excerpt

BACKGROUND AND AIMS: Several genes have been identified to be causative for the disease in a subset of patients with focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome (NS). Mutations in genes with autosomal dominant inheritance mostly affect adolescent or adult patients. In rare ca...

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Source

Identifiers

PMID: 22732337
DOI: 10.5414/cn107320

Genes

NPHS2
ACTN4
INF2
NPHS1
TRPC6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22732337-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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