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Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy

24 Oct 2022

Abstract excerpt

Importance: There are many known acquired risk factors for cerebral palsy (CP), but in some cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a wide range of diagnostic yields for sequence variants assessed by exome sequencing (ES) and copy number variants (CNVs) assessed by chromosomal microarray (CMA). Objective: To synthesize the emerging CP genetics literature and...

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PMID: 36279113
DOI: 10.1001/jamaneurol.2022.3549

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