Article
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Molecular genetics & genomic medicine - 1 May 2020
Tsang Mandy H Y, Chiu Annie T G, Kwong Bernard M H, Liang Rui, Yu Mullin H C, Yeung Kit-San, Ho Wetor H L, Mak Christopher C Y, Leung Gordon K C, Pei Steven L C, Fung Jasmine L F, Wong Virginia C N, Muntoni Francesco, Chung Brian H Y, Chan Sophelia H S
Abstract excerpt
BACKGROUND: Neuromuscular disorders (NMDs) comprise a group of heterogeneous genetic diseases with a broad spectrum of overlapping the clinical presentations that makes diagnosis challenging. Notably, the recent introduction of whole-exome sequencing (WES) is introducing rapid changes on the genetic diagnosis of NMDs. We aimed to investigate the diagnostic value of WES for pediatric-onset NMDs. METHODS: We...
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