Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing

Although rare, inherited retinal degenerations (IRDs) are the most common reason for blind registration in the working age population. They are highly genetically heterogeneous (>300 known genetic loci), and confirmation of a molecular diagnosis is a prerequisite for many therapeutic clinical tri...

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Bibliographic Details
Main Authors: Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Laura Whelan, Tomás Burke, Jacqueline Turner, James J. O’Byrne, G. Jane Farrar, David J. Keegan
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:International Journal of Molecular Sciences
Subjects:
inherited retinal degenerations
retinal dystrophy
genetic testing
next generation sequencing
whole exome sequencing
single gene sequencing
Online Access:https://www.mdpi.com/1422-0067/23/2/995

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https://www.mdpi.com/1422-0067/23/2/995

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