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Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing

Although fetal cardiac rhabdomyoma can be the initial finding in patients with tuberous sclerosis complex (TSC), the challenges of precise genetic diagnosis of TSC can now be potentially overcome by new whole or targeted genomic sequencing. The goals of this study were to investigate the correlation...

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Detalles Bibliográficos
Autores principales: Gu, Xiaoyan, Han, Ling, Chen, Jian, Wang, Jianbin, Hao, Xiaoyan, Zhang, Ye, Zhang, Jun, Ge, Shuping, He, Yihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5908597/
https://www.ncbi.nlm.nih.gov/pubmed/29642139
http://dx.doi.org/10.1097/MD.0000000000010112