Artificial cells, nanomedicine, and biotechnologyHumansDevelopmental DisabilitiesIntronsFemaleRNA Splicing
Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.
Lu Bai, Yu Hei, Rujin Tian, Haozheng Zhang, Hongmei Xin, Yanan Yang, Lili Ge, Yuqiang Lv, Xiao Mu, Zhongtao Gai, Guohua Liu, Lifen Gao, Kaihui Zhang
Published: 202610.1080/21691401.2026.2612914
Abstract
Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus. We identified two novel intronic variants in intron 29 of K…
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