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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Detalles Bibliográficos
Autores principales: Stephenson, Kirk A. J., Zhu, Julia, Dockery, Adrian, Whelan, Laura, Burke, Tomás, Turner, Jacqueline, O’Byrne, James J., Farrar, G. Jane, Keegan, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8780304/
https://www.ncbi.nlm.nih.gov/pubmed/35055178
http://dx.doi.org/10.3390/ijms23020995

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