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Article

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

Molecular vision - 1 Jan 2023

Ordoñez-Labastida Vianey, Chacon-Camacho Oscar F, Lopez-Rodriguez Victor R, Zenteno Juan C

Abstract excerpt

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 molecular spectrum, the results of genetic screening in a large cohort of Mexican patients are presented. Methods: The study...

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PMID: 37287646
PMCID: PMC10243674

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USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.PMID 37287646Read ↗

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