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Article

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

Scientific reports - 26 Mar 2018

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

Abstract excerpt

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 of 31 pediatric patients showing neurodevelopmental delay accompanied unexplained dyspnea were admitted to our...

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PMID: 29581464
DOI: 10.1038/s41598-018-23503-2
PMCID: PMC5980106

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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