A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing

In the present era of evolving gene-based therapies for inherited retinal dystrophies (IRDs), it has become increasingly important to verify the genotype in every case, to identify all subjects eligible for treatment. Moreover, combined insight concerning phenotypes and genotypes is crucial for impr...

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Bibliographic Details
Main Authors: Maria Areblom, Sten Kjellström, Sten Andréasson, Anders Öhberg, Lotta Gränse, Ulrika Kjellström
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Genes
Subjects:
inherited retinal dystrophy
next generation sequencing
DNA analysis
phenotype–genotype correlation
re-analysis
Online Access:https://www.mdpi.com/2073-4425/14/7/1413

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https://www.mdpi.com/2073-4425/14/7/1413

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