Article
Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau Syndrome.
American journal of medical genetics. Part A - 1 Mar 2025
Tie Xiaoling, Che Fengyu, Liu Siting, Mo Lidangzhi, Zhang Liyu, Li Benchang, Yang Ying
Abstract excerpt
Snijders Blok-Campeau syndrome (SNIBCPS, OMIM#618205) is an autosomal dominant neurodevelopmental disorder attributed to pathogenic variants in the chromodomain helicase DNA binding protein 3 (CHD3) gene. To date, more than 100 individuals have been diagnosed with SNIBCPS. The syndrome is characterized by intellectual disability, global developmental delay, speech or language impediments, and dysmorphic features...
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