Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population

@inproceedings{Vincent2009PhenotypicCA,
  title={Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population},
  author={Andrea L Vincent and Rachael L. Niederer and Amanda B Richards and Betina Karolyi and Dipika V. Patel and Charles N. J. McGhee},
  booktitle={Molecular vision},
  year={2009}
}
PURPOSE Posterior Polymorphous Dystrophy (PPCD) is a genetically heterogeneous corneal dystrophy, with linkage to three different chromosomal loci, with several genes in these loci being implicated. The role of both VSX1 and COL8A2 in PPCD remains controversial but recent work suggests that mutations in the transcription factor gene ZEB1/TCF8 account for disease in up to 30% of subjects, with a significant association with connective tissue abnormalities. This study aimed to determine the… CONTINUE READING

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