Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216811/
https://www.ncbi.nlm.nih.gov/pubmed/32154989
http://dx.doi.org/10.1002/mgg3.1205

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216811/
https://www.ncbi.nlm.nih.gov/pubmed/32154989
http://dx.doi.org/10.1002/mgg3.1205

Ejemplares similares