Phenotypic and Genetic Complexity in Pediatric Movement Disorders

The complex and evolving nature of clinical phenotypes have made genetically diagnosing pediatric patients with movement disorders difficult. Here, we describe this diverse complexity in the clinical and genetic features of a pediatric cohort examined by whole-exome sequencing (WES) and demonstrate...

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Detalles Bibliográficos
Autores principales: Kim, Min-Jee, Yum, Mi-Sun, Seo, Go Hun, Ko, Tae-Sung, Lee, Beom Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198294/
https://www.ncbi.nlm.nih.gov/pubmed/35719373
http://dx.doi.org/10.3389/fgene.2022.829558

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9198294/
https://www.ncbi.nlm.nih.gov/pubmed/35719373
http://dx.doi.org/10.3389/fgene.2022.829558

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