Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy

BACKGROUND: Due to large genetic and phenotypic heterogeneity, the conventional workup for Charcot-Marie-Tooth (CMT) diagnosis is often underpowered, leading to diagnostic delay or even lack of diagnosis. In the present study, we explored how bioinformatics analysis on whole-exome sequencing (WES) d...

Descripción completa

Detalles Bibliográficos
Autores principales: Jiang, Hui, Guo, Chunmiao, Xie, Jie, Pan, Jingxin, Huang, Ying, Li, Miaoxin, Guo, Yibin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7923504/
https://www.ncbi.nlm.nih.gov/pubmed/33653295
http://dx.doi.org/10.1186/s12883-021-02093-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7923504/
https://www.ncbi.nlm.nih.gov/pubmed/33653295
http://dx.doi.org/10.1186/s12883-021-02093-z

Ejemplares similares