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

• Main Authors: Xiaoyu Huang (Author), Huiping Li (Author), Shangying Yang (Author), Meijiao Ma (Author), Yuanyuan Lian (Author), Xueli Wu (Author), Xiaolong Qi (Author), Xuhui Wang (Author), Weining Rong (Author), Xunlun Sheng (Author)
• Format: Book
• Published: BMC, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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, developmental or cognitive delay of varying degree, hypotonia, hirsutism/hypertrichosis, s...