The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes

In this work, we aimed to provide the genetic diagnosis of a large cohort of patients affected with inherited retinal dystrophies (IRDs) from Mexico. Our data add valuable information to the genetic portrait in rare ocular diseases of Mesoamerican populations, which are mostly under-represented in g...

Full description

Bibliographic Details
Main Authors: Cristina Villanueva-Mendoza, Miquel Tuson, David Apam-Garduño, Marta de Castro-Miró, Raul Tonda, Jean Remi Trotta, Gemma Marfany, Rebeca Valero, Vianney Cortés-González, Roser Gonzàlez-Duarte
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Genes
Subjects:
inherited retinal dystrophies
genetic diagnosis
whole-exome sequencing (WES)
<i>RAB28</i>
<i>CWC27</i>
Online Access:https://www.mdpi.com/2073-4425/12/11/1824

Internet

https://www.mdpi.com/2073-4425/12/11/1824

Similar Items