Article
Gene-based burden testing implicates four novel susceptibility genes associated with isolated short stature in pediatric patients.
World journal of pediatrics : WJP - 1 Mar 2026
Xiao Fei, Cai Ming-Yue, Yang Bing-Yu, Gu Wu-Di, Wang Li-Li, Wu Hai-Ying, Xie Rong-Rong, Wang Feng-Yun, Chen Xiu-Li, Chen Lin-Qi, Zhang Dan-Dan, Wang Qing, Wang Hong-Ying, Jin Yu, Wang Xue-Qian, Chen Ting
Abstract excerpt
BACKGROUND: Idiopathic short stature (ISS), a common cause of unexplained growth failure in children, remains poorly characterized at the genetic level. This study aimed to investigate the contribution of rare variant burdens in growth-related genes and pathways to the etiology of ISS using next-generation sequencing and gene-based burden testing, thereby identifying novel genetic contributors to the polygenic...
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