Associated Papers
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis.
Heide S et al.
Journal of Medical Genetics, 2024
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
Dudakova L et al.
Genes, 2021
Investigating the Molecular Basis of PPCD3: Characterization of ZEB1 Regulation of COL4A3 Expression.
Chung DW et al.
Investigative Ophthalmology & Visual Science, 2016
Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
Chung DW et al.
Investigative Ophthalmology & Visual Science, 2014
Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
Lechner J et al.
Investigative Ophthalmology & Visual Science, 2013
Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.
Bakhtiari P et al.
Molecular Vision, 2013
Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia.
Aldave AJ et al.
American Journal of Medical Genetics. Part A, 2007
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