Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.

Acta ophthalmologica - 1 Sept 2010

Nguyen Dan Q, Hosseini Mohsen, Billingsley Gail, Héon Elise, Churchill Amanda J

Abstract excerpt

PURPOSE: To describe the clinical phenotype in a family with posterior polymorphous corneal dystrophy (PPCD) and a novel mutation in the ZEB1 gene. METHODS: Clinical examination, anterior segment photography, specular microscopy and electrophysiological investigations were performed and quantified. Genomic DNA extracted from peripheral blood was sequenced for ZEB1 exons. Cosegregation of identified mutation with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Count
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Endothelium, Corneal

Share to Homeodomain Proteins

Share to Polymorphism, Restriction Fragment Length

Share to Transcription Factors

Share to Zinc Finger E-box-Binding Homeobox 1

Source

Identifiers

PMID: 19432861
DOI: 10.1111/j.1755-3768.2009.01511.x

Genes

ZEB1

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.PMID 19432861Read ↗

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.Semantic proximity Read ↗

Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.Semantic proximity Read ↗

Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene.Semantic proximity Read ↗

Novel Frameshift Mutation in ZEB1 in a Family with a Severe Form of Posterior Polymorphous Corneal Dystrophy (PPCD)Semantic proximity Read ↗

Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.Semantic proximity Read ↗

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.Semantic proximity Read ↗

Transcriptomic Profiling of Posterior Polymorphous Corneal DystrophySemantic proximity Read ↗

Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.Semantic proximity Read ↗

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

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.Semantic proximity Read ↗

Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum.Semantic proximity Read ↗

Genetics of the corneal endothelial dystrophies: an evidence-based reviewSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.