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Davidson, Alice E; Hafford-Tear, Nathaniel J; Dudakova, Lubica; Sadan, Amanda N; Pontikos, Nikolas; Hardcastle, Alison J; Tuft, Stephen J; Liskova, Petra
European journal of human genetics : EJHG, 01/2020, Letnik: 28, Številka: 1Journal Article
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.
