Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

Background: The aim of this study was to describe the application of whole exome sequencing (WES) in the accurate genetic diagnosis and personalized treatment of extremely rare neurogenetic disorders. Methods: From 2017 to 2019, children with neurodevelopmental symptoms were evaluated using WES in t...

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Detalles Bibliográficos
Autores principales: Kim, Min-Jee, Yum, Mi-Sun, Seo, Go Hun, Lee, Yena, Jang, Han Na, Ko, Tae-Sung, Lee, Beom Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699758/
https://www.ncbi.nlm.nih.gov/pubmed/33233562
http://dx.doi.org/10.3390/jcm9113724

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699758/
https://www.ncbi.nlm.nih.gov/pubmed/33233562
http://dx.doi.org/10.3390/jcm9113724

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