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Article

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2011

Mbarek Ibtihel Benhaj, Abroug Saoussen, Omezzine Asma, Pawtowski Audrey, Gubler Marie Claire, Bouslama Ali, Harbi Abdelaziz, Antignac Corinne

Abstract excerpt

Steroid-resistant nephrotic syndrome (NS) remains one of the most intractable causes of end-stage renal disease in the first two decades of life. Several genes have been involved including NPHS1, NPHS2, WT1, PLCE1, and LAMB2. Our aim was to identify causative mutations in these genes, in 24 children belonging to 13 families with NS manifesting with various ages of onset. We performed haplotype analysis and direct...

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Source

Identifiers

PMID: 21125408
DOI: 10.1007/s00467-010-1694-8

Genes

LAMB2
NPHS1
NPHS2
PLCE1

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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