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Article

Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.

European journal of human genetics : EJHG - 1 Jul 2016

Liskova Petra, Evans Cerys J, Davidson Alice E, Zaliova Marketa, Dudakova Lubica, Trkova Marie, Stranecky Viktor, Carnt Nicole, Plagnol Vincent, Vincent Andrea L, Tuft Stephen J, Hardcastle Alison J

Abstract excerpt

A substantial proportion of patients with posterior polymorphous corneal dystrophy (PPCD) lack a molecular diagnosis. We evaluated 14 unrelated probands who had a clinical diagnosis of PPCD who were previously determined to be negative for mutations in ZEB1 by direct sequencing. A combination of techniques was used including whole-exome sequencing (WES), single-nucleotide polymorphism (SNP) array copy number...

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Share to Aged, 80 and over
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Gene Deletion

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Source

Open in PubMed Open full text

Identifiers

PMID: 26508574
DOI: 10.1038/ejhg.2015.232
PMCID: PMC5070886

Genes

ZEB1

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.

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