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Article

Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.

BMC ophthalmology - 12 Feb 2024

Villafuerte-de la Cruz Rocio A, Garza-Garza Lucas A, Garza-Leon Manuel, Rodriguez-De la Torre Cesar, Parra-Bernal Cinthya, Vazquez-Camas Ilse, Ramos-Gonzalez David, Rangel-Padilla Andrea, Espino Barros-Palau Angelina, Nava-García Jose, Castillo-Velazquez Javier, Castillo-De Leon Erick, Del Valle-Penella Agustin, Valdez-Garcia Jorge E, Rojas-Martinez Augusto

Abstract excerpt

BACKGROUND: Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity. There is limited information regarding the genetic landscape of inherited retinal diseases in Mexico, therefore, the present study was conducted in the northeast region of the country. METHODS:...

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PMID: 38347443
DOI: 10.1186/s12886-023-03276-7
PMCID: PMC10860328

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