Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.
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DOI: 10.1111/cge.14074
Abstract: Phelan-McDermid syndrome (PMS) (OMIM *606232) is a rare genetic disorder characterized by intellectual disability, autistic features, speech delay, minor dysmorphia, and seizures. This study was conducted to investigate the prevalence of seizures and the association… read more here.
Keywords: metabolic profiling; profiling individuals; genetic metabolic; individuals phelan ... See more keywords