Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases

Abstract Background Most of fetal cardiac rhabdomyomas (CRs) are associated with tuberous sclerosis (TSC), an autosomal dominant inherited disorder caused by mutations in the TSC1 or TSC2 genes. Methods In this study, 12 fetuses with sonographically identified CR were included. A comprehensive analy...

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Principais autores:	Jing Liu, Jun He, Wanglan Tang, Jing Chen, Yingchun Luo, Haoxian Li, Zhuo Li, Lingqian Wu
格式:	Artigo
語言:	Inglês
出版:	BMC 2025-11-01
叢編:	BMC Pregnancy and Childbirth
主題:	Cardiac rhabdomyoma TSC1 TSC2 Trio-WES Prenatal diagnosis
在線閱讀:	https://doi.org/10.1186/s12884-025-08365-7
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