Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

doi:10.3390/ijms241411429

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Article

Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.

International journal of molecular sciences - 13 Jul 2023

Rodríguez-Solana Patricia, Arruti Natalia, Nieves-Moreno María, Mena Rocío, Rodríguez-Jiménez Carmen, Guerrero-Carretero Marta, Acal Juan Carlos, Blasco Joana, Peralta Jesús M, Del Pozo Ángela, Montaño Victoria E F, Dios-Blázquez Lucía De, Fernández-Alcalde Celia, González-Atienza Carmen, Sánchez-Cazorla Eloísa, Gómez-Cano María de Los Ángeles, Delgado-Mora Luna, Noval Susana, Vallespín Elena

Abstract excerpt

Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in childhood, the main objective of this study was to propose new responsible gene candidates that would allow a more targeted genetic approach and expand our genetic...

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PMID: 37511188
DOI: 10.3390/ijms241411429
PMCID: PMC10380485

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