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CUGC for posterior polymorphous corneal dystrophy (PPCD).
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jan; Vol. 28 (1), pp. 126-131. Date of Electronic Publication: 2019 Jun 14. - Publication Year :
- 2020
-
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.
- Subjects :
- Corneal Dystrophies, Hereditary diagnosis
DNA-Binding Proteins genetics
Genetic Testing standards
Humans
Practice Guidelines as Topic
Sensitivity and Specificity
Transcription Factors genetics
Zinc Finger E-box-Binding Homeobox 1 genetics
Corneal Dystrophies, Hereditary genetics
Genetic Testing methods
Subjects
Details
- Language :
- English
- ISSN :
- 1476-5438
- Volume :
- 28
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 31201376
- Full Text :
- https://doi.org/10.1038/s41431-019-0448-8