Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

@article{Davidson2016AutosomalDominantCE,
  title={Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.},
  author={Alice Davidson and Petra Liskova and Cerys J. Evans and Lubica Dudakova and Lenka Noskov{\'a} and Nikolas Pontikos and Hana Hartmannov{\'a} and Kateřina Hodaňov{\'a} and Viktor Str{\'a}neck{\'y} and Zbyněk Kozm{\'i}k and Hannah J Levis and Nwamaka Idigo and Noriaki Sasai and Geoffrey J Maher and James Bellingham and Neyme Veli and Neil D. Ebenezer and Michael E Cheetham and Julie T. Daniels and Caroline M H Thaung and Kateřina Jirsov{\'a} and Vincent Plagnol and M. Filipec and Stanislav Kmoch and Stephen J. Tuft and Alison J. Hardcastle},
  journal={American journal of human genetics},
  year={2016},
  volume={98 1},
  pages={75-89}
}
Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior polymorphous corneal dystrophy 1 (PPCD1) are autosomal-dominant corneal endothelial dystrophies that have been genetically mapped to overlapping loci on the short arm of chromosome 20. We combined genetic and genomic approaches to identify the cause of disease in extensive pedigrees comprising over 100 affected individuals. After exclusion of pathogenic coding, splice-site, and copy-number variations, a parallel approach using… CONTINUE READING
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