Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients

• Main Authors: Qiwei Wang (Author), Xiaoshan Lin (Author), Kunbei Lai (Author), Yinghui Liu (Author), Tingfeng Qin (Author), Haowen Tan (Author), Jing Li (Author), Zhuoling Lin (Author), Xulin Zhang (Author), Xiaoyan Li (Author), Haotian Lin (Author), Weirong Chen (Author)
• 格式: 图书
• 出版: BMC, 2023-10-01T00:00:00Z.
• 主题: article
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Abstract Background Cranio-lenticulo-sutural dysplasia (CLSD) is a rare dysmorphic syndrome characterized by skeletal dysmorphism, late-closing fontanels, and cataracts. CLSD is caused by mutations in the SEC23A gene (OMIM# 607812) and can be inherited in either an autosomal dominant or autosomal re...