Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea

Neurodevelopmental delay accompanied unexplained dyspnea is a highly lethal disease in clinic. This study is to investigate the performance characteristics of trio whole exome sequencing (Trio-WES) in a pediatric setting by presenting our patient cohort and displaying the diagnostic yield. A total o...

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Detalles Bibliográficos
Autores principales: Tong, Wenjia, Wang, Yajian, Lu, Yun, Ye, Tongsheng, Song, Conglei, Xu, Yuanyuan, Li, Min, Ding, Jie, Duan, Yuanyuan, Zhang, Le, Gu, Weiyue, Zhao, Xiaoling, Yang, Xiu-An, Jin, Danqun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980106/
https://www.ncbi.nlm.nih.gov/pubmed/29581464
http://dx.doi.org/10.1038/s41598-018-23503-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5980106/
https://www.ncbi.nlm.nih.gov/pubmed/29581464
http://dx.doi.org/10.1038/s41598-018-23503-2

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