Davidson, AE;
Hafford-Tear, NJ;
Dudakova, L;
Sadan, AN;
Pontikos, N;
Hardcastle, AJ;
Tuft, SJ;
(2020)
CUGC for posterior polymorphous corneal dystrophy (PPCD).
European Journal of Human Genetics
, 28
pp. 126-131.
10.1038/s41431-019-0448-8.
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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 the OVOL2, ZEB1 and GRHL2 gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives.
| Type: | Article |
|---|---|
| Title: | CUGC for posterior polymorphous corneal dystrophy (PPCD) |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41431-019-0448-8 |
| Publisher version: | https://doi.org/10.1038/s41431-019-0448-8 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Disease genetics, Genetic testing, Genetics |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10076934 |
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