Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

PURPOSE: Cone rod dystrophy (CRD) is a group of inherited retinopathies characterized by the loss of cone and rod photoreceptor cells, which results in poor vision. This study aims to clinically and genetically characterize the segregating CRD phenotype in two large, consanguineous Pakistani familie...

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Detalles Bibliográficos
Publicado en:Invest Ophthalmol Vis Sci
Main Authors: Sheikh, Shakeel A., Sisk, Robert A., Schiavon, Cara R., Waryah, Yar M., Usmani, Muhammad A., Steel, David H., Sayer, John A., Narsani, Ashok K., Hufnagel, Robert B., Riazuddin, Saima, Kahn, Richard A., Waryah, Ali M., Ahmed, Zubair M.
Formato: Artigo
Idioma:Inglês
Publicado: The Association for Research in Vision and Ophthalmology 2019
Assuntos:
Retina
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6944245/
https://ncbi.nlm.nih.gov/pubmed/31743939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.19-27263
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