Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid‐capture next‐generation sequencing

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‐depende...

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Detalles Bibliográficos
Autores principales: Wang, Siyu, Sun, Hairui, Wang, Jianbin, Gu, Xiaoyan, Han, Lu, Wu, Yuduo, Yan, He, Han, Ling, Zhang, Hongjia, He, Yihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580080/
https://www.ncbi.nlm.nih.gov/pubmed/34480426
http://dx.doi.org/10.1002/mgg3.1802

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