A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

Despite major progress in the discovery of causative genes, many individuals and families with inherited retinal degenerations (IRDs) remain without a molecular diagnosis. We applied whole exome sequencing to identify the genetic cause in a family with an autosomal dominant IRD. Eye examinations wer...

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Bibliographic Details
Main Authors: Rinki Ratnapriya, Samuel G. Jacobson, Artur V. Cideciyan, Milton A. English, Alejandro J. Roman, Alexander Sumaroka, Rebecca Sheplock, Anand Swaroop
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-08-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
chromatic perimetry
ciliopathy
cones
electroretinography
retinal degeneration
rods
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.720782/full

Internet

https://www.frontiersin.org/articles/10.3389/fcell.2021.720782/full

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