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

Genes - 19 Nov 2021

Villanueva-Mendoza Cristina, Tuson Miquel, Apam-Garduño David, de Castro-Miró Marta, Tonda Raul, Trotta Jean Remi, Marfany Gemma, Valero Rebeca, Cortés-González Vianney, Gonzàlez-Duarte Roser

Abstract excerpt

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 genetic studies. A cohort of 144 unrelated probands with a clinical diagnosis of IRD were analyzed by next-generation...

Topics

Adult
Female
Genetic Heterogeneity
Humans
Male
Mexico
Mutation
Phenotype
Retinal Diseases

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34828430
DOI: 10.3390/genes12111824
PMCID: PMC8624043

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