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Article

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.

Journal of the American Society of Nephrology : JASN - 1 Jul 2010

Machuca Eduardo, Benoit Geneviève, Nevo Fabien, Tête Marie-Josèphe, Gribouval Olivier, Pawtowski Audrey, Brandström Per, Loirat Chantal, Niaudet Patrick, Gubler Marie-Claire, Antignac Corinne

Abstract excerpt

Mutations in NPHS1, which encodes nephrin, are the main causes of congenital nephrotic syndrome (CNS) in Finnish patients, whereas mutations in NPHS2, which encodes podocin, are typically responsible for childhood-onset steroid-resistant nephrotic syndrome in European populations. Genotype-phenotype correlations are not well understood in non-Finnish patients. We evaluated the clinical presentation, kidney...

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Source

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Identifiers

PMID: 20507940
DOI: 10.1681/ASN.2009121309
PMCID: PMC3152225

Genes

NPHS1
NPHS2
COQ2
LAMB2
PDSS2
PLCE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.Semantic proximity Read ↗

NPHS Mutations in Pediatric Patients with Congenital and Steroid-Resistant Nephrotic Syndrome.Semantic proximity Read ↗

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