Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 209,942,563 papers from all fields of science
Search
Sign In
Create Free Account
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder)
Known as:
Corneal Dystrophy, Posterior Polymorphous, 3
, PPCD3
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
3 relations
Broader (1)
Hereditary corneal dystrophy
ZEB1, 1350C-T
Zinc 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
P. Lišková
,
C. J. Evans
,
+9 authors
A. Hardcastle
European Journal of Human Genetics
2016
Corpus ID: 40371056
A substantial proportion of patients with posterior polymorphous corneal dystrophy (PPCD) lack a molecular diagnosis. We…
Expand
2015
2015
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3
C. J. Evans
,
P. Lišková
,
+7 authors
S. Tuft
Annals of Human Genetics
2015
Corpus ID: 206980562
Posterior polymorphous corneal dystrophy 3 (PPCD3) is a rare autosomal dominant disorder caused by mutations in ZEB1. To date all…
Expand
2014
2014
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
D. D. Chung
,
R. Frausto
,
Lydia B. Ann
,
M. Jang
,
A. Aldave
Investigative Ophthalmology and Visual Science
2014
Corpus ID: 23015306
PURPOSE To assess the impact of zinc finger E-box binding homeobox 1 (ZEB1) gene mutations associated with posterior polymorphous…
Expand
2014
2014
Posterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosum
M. Jang
,
Ashley N. Roldan
,
R. Frausto
,
A. Aldave
Vision Research
2014
Corpus ID: 15965307
Review
2013
Review
2013
Genetics of the corneal endothelial dystrophies: an evidence‐based review
A. Aldave
,
J. Han
,
R. Frausto
Clinical Genetics
2013
Corpus ID: 23389780
The aim of this review was to provide an evidenced‐based review of the genetic basis of the corneal endothelial dystrophies. A…
Expand
Highly Cited
2013
Highly Cited
2013
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
J. Lechner
,
D. Dash
,
+11 authors
C. Willoughby
Investigative Ophthalmology and Visual Science
2013
Corpus ID: 29324409
PURPOSE Mutations in ZEB1 have been reported in posterior polymorphous corneal dystrophy (PPCD3; MIM #609141) and Fuchs…
Expand
Review
2013
Review
2013
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.
P. Lišková
,
M. Palos
,
A. Hardcastle
,
A. Vincent
JAMA ophthalmology
2013
Corpus ID: 205130679
IMPORTANCE Posterior polymorphous corneal dystrophy (PPCD) is a very rare disorder characterized by primary changes of the…
Expand
2012
2012
Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.
V. Yellore
,
S. A. Rayner
,
+4 authors
A. Aldave
Investigative Ophthalmology and Visual Science
2012
Corpus ID: 2905765
PURPOSE To determine how nonsense mutations in the transcription factor ZEB1 lead to the development of posterior polymorphous…
Expand
Highly Cited
2005
Highly Cited
2005
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.
Charles M. Krafchak
,
H. Pawar
,
+18 authors
J. Richards
American Journal of Human Genetics
2005
Corpus ID: 15572774
Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of…
Expand
2004
2004
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10
S. Shimizu
,
Charles M. Krafchak
,
+11 authors
J. Richards
American Journal of Medical Genetics. Part A
2004
Corpus ID: 7688126
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE