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Article

Phenotypic and Genetic Complexity in Pediatric Movement Disorders

1 Jun 2022

Abstract excerpt

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 the clinical benefit of WES as a diagnostic tool in a pediatric cohort. We evaluated 75 patients with diverse single...

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Identifiers

PMID: 35719373
DOI: 10.3389/fgene.2022.829558

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