De Novo Variation in ARID1B Gene Causes Coffin-Siris Syndrome 1 in a Chinese Family with Excessive Early-Onset High Myopia

    May 2024 in “ BMC Medical Genomics
    Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng
    Studysummary This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
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