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Article

Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Nov 2013

Wilson Valerie, Darlay Rebecca, Wong William, Wood Katrina M, McFarlane Jeannette, Schejbel Lone, Schmidt Ida M, Harris Claire L, Tellez James, Hunze Eva-Maria, Marchbank Kevin, Goodship Judith A, Goodship Timothy H J

Abstract excerpt

We report a male infant who presented at 8 months of age with atypical hemolytic uremic syndrome (aHUS) responsive to plasma therapy. Investigation showed him to have complement factor H (CFH) deficiency associated with a homozygous CFH mutation (c.2880delT [p.Phe960fs]). Mutation screening of th...

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Source

Identifiers

PMID: 23870792
DOI: 10.1053/j.ajkd.2013.05.020

Genes

CFH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23870792-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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