Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes

Kolesnikova, M., Lima de Carvalho, J. R., Oh, J. K., Soucy, M., Demirkol, A., Kim, A. H., Tsang, S. H., & Breazzano, M. P. (2023). Phenotypic Variability of Retinal Disease Among a Cohort of Patients With Variants in the CLN Genes. Investigative Opthalmology & Visual Science, 64(3), 23. https://doi.org/10.1167/iovs.64.3.23
Authors:
Masha Kolesnikova
José Ronaldo Lima de Carvalho
Jin Kyun Oh
Megan Soucy
Aykut Demirkol
Angela H. Kim
Stephen H. Tsang
Mark P. Breazzano
Affiliated Authors:
Masha Kolesnikova
Jin Kyun Oh
Megan Soucy
Aykut Demirkol
Angela H. Kim
Stephen H. Tsang
Columbia Affiliation:
Subjects:
Genetic Testing (MeSH)
Retinal Dystrophies (MeSH)
Molecular Mechanisms of Retinal Degeneration and Regeneration (OpenAlex Topic)
Lysosomal Storage Disorders in Human Health and Disease (OpenAlex Topic)
Age-Related Macular Degeneration Research (OpenAlex Topic)
Author Keywords:
cln3
cln8
fferg
grn
maculopathy
mfsd8
nonsyndromic
rod-cone dystrophy
elink
Publication Type:
Article
Unique ID:
10.1167/iovs.64.3.23
PMID:
36912596
DOI:
10.1167/iovs.64.3.23
Journal:
Investigative Ophthalmology and Visual Science
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created: