Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China

OBJECTIVES: Whole exome sequencing (WES) has been widely used to detect genetic disorders in critically ill children. Relevant data are lacking in pediatric intensive care units (PICUs) of China. This study aimed to investigate the spectrum of monogenic disorders, the diagnostic yield and clinical u...

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Detalles Bibliográficos
Autores principales: Liu, Yingchao, Hao, Chanjuan, Li, Kechun, Hu, Xuyun, Gao, Hengmiao, Zeng, Jiansheng, Guo, Ruolan, Liu, Jun, Guo, Jun, Li, Zheng, Qi, Zhan, Jia, Xinlei, Li, Wei, Qian, Suyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440967/
https://www.ncbi.nlm.nih.gov/pubmed/34539730
http://dx.doi.org/10.3389/fgene.2021.677699

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440967/
https://www.ncbi.nlm.nih.gov/pubmed/34539730
http://dx.doi.org/10.3389/fgene.2021.677699

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