Journal article
Genetic and clinical findings in an ethnically diverse cohort with Retinitis Pigmentosa associated with pathogenic variants in CERKL
- Abstract:
-
Autosomal recessive retinitis pigmentosa is caused by mutations in over 40 genes, one of which is the ceramide kinase-like gene (CERKL). We present a case series of six patients from six unrelated families diagnosed with inherited retinal dystrophies (IRD) and with two variants in CERKL; recruited from a multi-ethnic British population. A retrospective review of clinical data in these patients was performed and included colour fundus photography, fundus autofluorescence (AF) ima...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Funding
Department of Health
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Bibliographic Details
- Publisher:
- MDPI Publisher's website
- Journal:
- Genes Journal website
- Volume:
- 11
- Issue:
- 12
- Article number:
- 1497
- Pages:
- 1-15
- Place of publication:
- Switzerland
- Publication date:
- 2020-12-12
- Acceptance date:
- 2020-12-10
- DOI:
- EISSN:
-
2073-4425
- Pmid:
-
33322828
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
1150303
- Local pid:
- pubs:1150303
- Deposit date:
- 2021-03-01
Terms of use
- Copyright holder:
- Downes et al.
- Copyright date:
- 2020
- Rights statement:
- ©2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
- Licence:
- CC Attribution (CC BY)
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