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

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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...

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Auteurs principaux:	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
Langue:	EN
Publié:	MDPI AG 2021
Sujets:	inherited retinal dystrophies genetic diagnosis whole-exome sequencing (WES) <i>RAB28</i> <i>CWC27</i> Genetics QH426-470
Accès en ligne:	https://doaj.org/article/be8d90764c1e4777a44d8388f0a034b8
Tags:	Ajouter un tag Pas de tags, Soyez le premier à ajouter un tag!

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