Open access
Sep 2026
A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing
ABSTRACT Idiopathic pediatric uveitis (IPU) is a leading cause of irreversible vision loss in children; however, the genetic and molecular mechanisms underlying this condition remain unclear. Herein, trio‐based whole‐exome sequencing was performed in 28 affected families and targeted sequencing was performed in 1953 sp...
Qian Zhou, Jia-Xing Huang, Yi-Lin Wang et al.
· Advancement of science · 0 citations