Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes

Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes

Abstract Retinopathy of prematurity (ROP) is a vasoproliferative retinal disease affecting premature infants. In addition to prematurity itself and oxygen treatment, genetic factors have been suggested to predispose to ROP. We aimed to identify potentially pathogenic genes and biological pathways as...

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Autores principales: Sang Jin Kim, Kemal Sonmez, Ryan Swan, J. Peter Campbell, Susan Ostmo, R. V. Paul Chan, Aaron Nagiel, Kimberly A. Drenser, Audina M. Berrocal, Jason D. Horowitz, Xiaohui Li, Yii-Der Ida Chen, Kent D. Taylor, Charles Simmons, Jerome I. Rotter, Michael F. Chiang, Imaging and Informatics in Retinopathy of Prematurity (i-ROP) Research Consortium
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/a378debb1fbd47f5b031410e62150d96
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https://doaj.org/article/a378debb1fbd47f5b031410e62150d96

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