USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients

BACKGROUND: Mutations in the USH2A gene are the leading cause of both non-syndromic autosomal recessive retinitis pigmentosa (RP) and Usher syndrome, a syndromic form of RP characterized by retinal dystrophy and sensorineural hearing loss. To contribute to the expansion of the USH2A-related molecula...

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Detalles Bibliográficos
Autores principales: Ordoñez-Labastida, Vianey, Chacon-Camacho, Oscar F., Lopez-Rodriguez, Victor R., Zenteno, Juan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243674/
https://www.ncbi.nlm.nih.gov/pubmed/37287646

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10243674/
https://www.ncbi.nlm.nih.gov/pubmed/37287646

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