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  1. Article

    Open Access

    De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

    Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal phalanx or nail of the fifth and additional digits, developm...

    **aoyu Huang, Hui** Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian… in BMC Medical Genomics (2024)

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