Article
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.
BMC medical genomics - 12 Oct 2023
Wang Qiwei, Lin Xiaoshan, Lai Kunbei, Liu Yinghui, Qin Tingfeng, Tan Haowen, Li Jing, Lin Zhuoling, Zhang Xulin, Li Xiaoyan, Lin Haotian, Chen Weirong
Abstract excerpt
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 recessive pattern. To date, only four mutations have been reported to cause CLSD. This study aims to identify the...
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