Mutations in the PACS2 gene are responsible for neonatal-onset developmental and epileptic encephalopathy, mild facial dysmorphisms, and cerebellar dysgenesis with folia abnormalities [1].
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Mutations in the PACS2 gene are responsible for neonatal-onset developmental and epileptic encephalopathy, mild facial dysmorphisms, and cerebellar dysgenesis with folia abnormalities [1].