Abstract
Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD). OMIM# of the disease 122000; 609141; 618031. Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4). OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives.
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CITATION STYLE
Davidson, A. E., Hafford-Tear, N. J., Dudakova, L., Sadan, A. N., Pontikos, N., Hardcastle, A. J., … Liskova, P. (2020). CUGC for posterior polymorphous corneal dystrophy (PPCD). European Journal of Human Genetics, 28(1), 126–131. https://doi.org/10.1038/s41431-019-0448-8
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