CUGC for posterior polymorphous corneal dystrophy (PPCD)
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Published on: December 29, 2017
Alice E Davidson1, Nathaniel J Hafford-Tear2, Lubica Dudakova3
1UCL Institute of Ophthalmology, London, EC1V 9EL, UK. alice.davidson@ucl.ac.uk.
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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