Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

BackgroundMuscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.MethodsThis study aimed to investigate the use of whole exome sequencing (WES) in diagnosing muscular disord...

Descripción completa

Detalles Bibliográficos

Autores principales:	Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2024-05-01
Colección:	Frontiers in Genetics
Materias:	muscular disorders muscular dystrophies congenital myopathies whole exome sequencing mutational diversity
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1365729/full
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!