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Article

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Apr 2004

Caridi Gianluca, Berdeli Afig, Dagnino Monica, Di Duca Marco, Mir Sevgi, Cura Alphan, Ravazzolo Roberto, Ghiggeri Gian Marco

Abstract excerpt

Mutations of NPHS2, ie, the gene coding for podocin, are associated with nephrotic syndrome (NS) in children, with a clinical phenotype characterized by variable age at onset (from 1 to 10 years) and steroid/cyclosporine resistance. The authors describe an infantile variant in 2 families (3 patients) from Turkey, characterized by homozygosity of a complex haplotype, in which 2 podocin mutations (P20L-R168H) are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15042551
DOI: 10.1053/j.ajkd.2003.12.034

Genes

NPHS2

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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