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Article

Deciphering the etiology of undiagnosed ocular anomalies along with systemic alterations in pediatric patients through whole exome sequencing.

Scientific reports - 22 Jun 2024

Reyna-Fabián Miriam E, Fernández-Hernández Liliana, Enríquez-Flores Sergio, Apam-Garduño David, Prado-Larrea Carolina, Seo Go Hun, Khang Rin, Cortés-González Vianney

Abstract excerpt

Inherited and developmental eye diseases are quite diverse and numerous, and determining their genetic cause is challenging due to their high allelic and locus heterogeneity. New molecular approaches, such as whole exome sequencing (WES), have proven to be powerful molecular tools for addressing these cases. The present study used WES to identify the genetic etiology in ten unrelated Mexican pediatric patients...

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Identifiers

PMID: 38909058
DOI: 10.1038/s41598-024-65227-6
PMCID: PMC11193775

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