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Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico

Abstract 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 ret...

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Hlavní autoři: Rocio A. Villafuerte-de la Cruz, Lucas A. Garza-Garza, Manuel Garza-Leon, Cesar Rodriguez-De la Torre, Cinthya Parra-Bernal, Ilse Vazquez-Camas, David Ramos-Gonzalez, Andrea Rangel-Padilla, Angelina Espino Barros-Palau, Jose Nava-García, Javier Castillo-Velazquez, Erick Castillo-De Leon, Agustin Del Valle-Penella, Jorge E. Valdez-Garcia, Augusto Rojas-Martinez
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2024-02-01
Edice:BMC Ophthalmology
Témata:
Retinal dystrophies
Inherited retinopathy
Pathogenic variant
Mexico
On-line přístup:https://doi.org/10.1186/s12886-023-03276-7
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