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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Detalles Bibliográficos
Autores principales: Areblom, Maria, Kjellström, Sten, Andréasson, Sten, Öhberg, Anders, Gränse, Lotta, Kjellström, Ulrika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379620/
https://www.ncbi.nlm.nih.gov/pubmed/37510321
http://dx.doi.org/10.3390/genes14071413

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10379620/
https://www.ncbi.nlm.nih.gov/pubmed/37510321
http://dx.doi.org/10.3390/genes14071413

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