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Article

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

Genetics research - 1 Dec 2013

Gibson Jane, Gilbert Rodney D, Bunyan David J, Angus Elizabeth M, Fowler Darren J, Ennis Sarah

Abstract excerpt

A girl aged 6 presented with haematuria and her sister (aged 5) presented with haematuria and proteinuria. Family history showed multiple individuals suffering from end stage renal failure from the paternal side of the pedigree. Following kidney biopsy in the father and paternal grandmother, the pathological diagnosis was of focal segmental glomerulosclerosis (FSGS). Exome sequencing was undertaken in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Glomerulosclerosis, Focal Segmental

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Source

Identifiers

PMID: 24472419
DOI: 10.1017/S0016672313000220

Genes

NPHS1

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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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