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Genetic testing and diagnosis of inherited retinal diseases

Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among IRDs, genetic testing is a critical step in obtaining a definitive diagnosis for affected...

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Detalles Bibliográficos
Autores principales:	Lam, Byron L., Leroy, Bart P., Black, Graeme, Ong, Tuyen, Yoon, Dan, Trzupek, Karmen
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8670140/ https://www.ncbi.nlm.nih.gov/pubmed/34906171 http://dx.doi.org/10.1186/s13023-021-02145-0

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