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CUGC for posterior polymorphous corneal dystrophy (PPCD).

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.

SUBMITTER: Davidson AE 

PROVIDER: S-EPMC6906511 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature

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CUGC for posterior polymorphous corneal dystrophy (PPCD).

Davidson Alice E AE   Hafford-Tear Nathaniel J NJ   Dudakova Lubica L   Sadan Amanda N AN   Pontikos Nikolas N   Hardcastle Alison J AJ   Tuft Stephen J SJ   Liskova Petra P  

European journal of human genetics : EJHG 20190614 1

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 assesm  ...[more]

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