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

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.

International journal of molecular sciences - 22 Dec 2022

Fernández-Gutiérrez Eva, Fernández-Pérez Pedro, Boto-De-Los-Bueis Ana, García-Fernández Laura, Rodríguez-Solana Patricia, Solís Mario, Vallespín Elena

Abstract excerpt

Posterior polymorphous corneal dystrophy (PPCD), a rare, bilateral, autosomal-dominant, inherited corneal dystrophy, affects the Descemet membrane and corneal endothelium. We describe an unusual presentation of PPCD associated with a previously unknown genetic alteration in the ZEB1 gene. The proband is a 64-year-old woman diagnosed with keratoconus referred for a corneal endothelium study who presented...

Read the complete abstract on PubMed

Topics

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

Share to Corneal Dystrophies, Hereditary
Share to Endothelium, Corneal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Mutation

Share to Transcription Factors

Share to Zinc Finger E-box-Binding Homeobox 1

Source

Open in PubMed Open full text

Identifiers

PMID: 36613650
DOI: 10.3390/ijms24010209
PMCID: PMC9820445

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation.PMID 36613650Read ↗

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

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 ↗

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

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

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

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

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

ZEB1 insufficiency causes corneal endothelial cell state transition and altered cellular processingSemantic proximity Read ↗

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