CUGC for posterior polymorphous corneal dystrophy (PPCD).
Alice E DavidsonNathaniel J Hafford-TearLubica DudakovaAmanda N SadanNikolas PontikosAlison J HardcastleStephen J TuftPetra LiskovaPublished in: European journal of human genetics : EJHG (2019)
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.