Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases
Combination of fetal CR detected by ultrasound and genetic testing can effectively diagnose the prenatal cases of TSC. Three novel variants in TSC genes enlarge the variants spectrum of TSC.
Authors
- Haoxian Li (ORCID: https://orcid.org/0000-0002-2234-6008)
- Zhuo Li (ORCID: https://orcid.org/0000-0001-6010-6139)
- Yingchun Luo (ORCID: https://orcid.org/0000-0001-8744-6299)
- Wanglan Tang
- Lingqian Wu (ORCID: https://orcid.org/0000-0002-7070-5896)
- Jing Chen (ORCID: https://orcid.org/0000-0001-8008-8062)
- Chun‐Feng Liu (ORCID: https://orcid.org/0000-0002-8364-0219)
- Jun He
Institutions
- Central South University (CN)
- Changsha Medical University (CN)
- Hunan Normal University (CN)
- Zhejiang Institute of Communications (CN)
- Medical Genetics Center (DE)
- Changsha Hospital for Maternal and Child Health Care (CN)
- Jiangmen Central Hospital (CN)
- MEMS RIGHT (China) (CN)
- Hunan Provincial Maternal and Child Health Hospital (CN)
- Hainan Medical University (CN)
Publication Details
- Journal
- BMC Pregnancy and Childbirth
- Published
- 2025-11-24
- DOI
- https://doi.org/10.1186/s12884-025-08365-7
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00