Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family

Muscular dystrophies are a group of heterogeneous clinical and genetic disorders. Two siblings presented with characteristics like muscular dystrophy, abnormal white matter, and elevated serum creatine kinase level. The high throughput of whole exome sequencing (WES) makes it an efficient tool for o...

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Detalles Bibliográficos
Autores principales: Nguyen, Ngoc-Lan, Ngoc, Can Thi Bich, Vu, Chi Dung, Nguyen, Thi Thu Huong, Nguyen, Huy Hoang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598670/
https://www.ncbi.nlm.nih.gov/pubmed/32987775
http://dx.doi.org/10.3390/diagnostics10100741

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7598670/
https://www.ncbi.nlm.nih.gov/pubmed/32987775
http://dx.doi.org/10.3390/diagnostics10100741

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