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CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)

Known as: Corneal Dystrophy, Posterior Polymorphous, 3, PPCD3 
National Institutes of Health

Related topics

Related topics

3 relations

Broader (1)

Hereditary corneal dystrophy
ZEB1, 1350C-TZinc Finger E-Box-Binding Homeobox 1, Human

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
A substantial proportion of patients with posterior polymorphous corneal dystrophy (PPCD) lack a molecular diagnosis. We… 
2015
2015
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3
Posterior polymorphous corneal dystrophy 3 (PPCD3) is a rare autosomal dominant disorder caused by mutations in ZEB1. To date all… 
2014
2014
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
PURPOSE To assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous… 
2014
2014
Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum
Review
2013
Review
2013
Genetics of the corneal endothelial dystrophies: an evidence‐based review
The aim of this review was to provide an evidenced‐based review of the genetic basis of the corneal endothelial dystrophies. A… 
Highly Cited
2013
Highly Cited
2013
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
PURPOSE Mutations in ZEB1 have been reported in posterior polymorphous corneal dystrophy (PPCD3; MIM #609141) and Fuchs… 
Review
2013
Review
2013
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.
IMPORTANCE Posterior polymorphous corneal dystrophy (PPCD) is a very rare disorder characterized by primary changes of the… 
2012
2012
Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.
PURPOSE To determine how nonsense mutations in the transcription factor ZEB1 lead to the development of posterior polymorphous… 
Highly Cited
2005
Highly Cited
2005
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of… 
2004
2004
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial… 
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