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Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement Disorders.

Pediatric neurology - 1 Dec 2023

Eskandar Marina, Tochen Laura, Shin Mi Ran, Lavenstein Bennett, Meltzer Meira, Gropman Andrea, Sen Kuntal

Abstract excerpt

In the past couple of decades, literature in pediatric neurology and clinical genetics has identified hundreds of monogenic disorders that can masquerade as infantile cerebral palsy (CP). Accurate and prompt diagnosis in such cases may be challenging due to several reasons. There are commercial multigene CP panels, but their diagnostic yield is often limited compared with exome sequencing because of diverse...

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PMID: 37757660
DOI: 10.1016/j.pediatrneurol.2023.08.040

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