Article
Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.
Molecular genetics & genomic medicine - 1 Oct 2021
Wang Siyu, Sun Hairui, Wang Jianbin, Gu Xiaoyan, Han Lu, Wu Yuduo, Yan He, Han Ling, Zhang Hongjia, He Yihua
Abstract excerpt
BACKGROUND: Fetal cardiac rhabdomyoma (CR) is strongly associated with tuberous sclerosis complex (TSC), which is caused by variants in TSC1 and TSC2. However, in 10%-15% of patients with clinically confirmed TSC, no TSC1/TSC2 variants are identified by panel sequencing or multiplex ligation-dependent probe amplification (MLPA). METHODS: We analyzed eight fetuses with CR and their families. No TSC1/TSC2 variants...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.