Article
Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.
Molecular genetics and metabolism - 1 Dec 2022
Al Zahrani Haifa, Siriwardena Komudi, Young Dana, Lehman Anna, Horvath Gabriella A, Goez Helly
Abstract excerpt
PURPOSE: The presentation and underlying etiology of Cerebral Palsy (CP) in general are heterogenous. Clinical features present differently in pediatric versus adult patient populations. Many metabolic and genetic conditions present with clinical symptoms suggestive of CP. Precision medicine practices are currently a standard of care, and Next-Generation-Sequencing (NGS) tools are used for the purpose of...
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