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

Abstract 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 addre...

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Hlavní autoři:	Miriam E. Reyna-Fabián, Liliana Fernández-Hernández, Sergio Enríquez-Flores, David Apam-Garduño, Carolina Prado-Larrea, Go Hun Seo, Rin Khang, Vianney Cortés-González
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2024-06-01
Edice:	Scientific Reports
On-line přístup:	https://doi.org/10.1038/s41598-024-65227-6
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