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Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021
See this aricle in Pubmed

Article Abstract
Among 2 cohorts of patients with cerebral palsy who underwent exome sequencing, the prevalence of pathogenic and likely pathogenic variants was 32.7% in a cohort that predominantly consisted of pediatric patients and 10.5% in a cohort that predominantly consisted of adult patients. Further research is needed to understand the clinical implications of these findings.
 
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cerebral palsy
cerebral palsy,etiology
cerebral palsy,work up
developmental disability
developmental retardation
exome sequencing
gene mutation
genetic counselling
genetic testing
molecular genetics
neurologic disease,diagnoses of
screening

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