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Article

Variable renal phenotype in a family with an INF2 mutation.

Pediatric nephrology (Berlin, Germany) - 1 Jan 2011

Lee Hyun Kyung, Han Kyoung Hee, Jung Yun Hye, Kang Hee Gyung, Moon Kyung Chul, Ha Il Soo, Choi Yong, Cheong Hae Il

Abstract excerpt

Recent advances in the genetics of glomerular diseases have identified several causative genes of nephrotic syndrome and/or glomerular proteinuria. In 2010, the INF2 gene, which encodes a member of the formin family of actin-regulating proteins, was identified as a novel causative gene of the autosomal dominant form of focal segmental glomerulosclerosis (FSGS). Here, we describe an additional familial case of...

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Source

Identifiers

PMID: 20803156
DOI: 10.1007/s00467-010-1644-5

Genes

INF2

Variants

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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Variable renal phenotype in a family with an INF2 mutation.PMID 20803156Read ↗

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