Phosphofurin Acidic Cluster Sorting Protein 1 Syndrome: Insights Gained on the Multisystem Involvement Reviewing Encoded Protein Interactions?
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Mutations in PACS1 cause moderate-to-severe intellectual disability. Very few cases of PACS1 neurodevelopment disorder have been described in the literature that were identified using whole exome sequencing (WES). We report a case of de novo PACS1 mutation ide... ...
