A novel VPS13A mutation in an Iranian family with Chorea-Acanthocytosis
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Chorea-Acanthocytosis (ChAc) is a rare genetic disorder characterized by progressive neurodegeneration and acanthocytosis in the bloodstream. Biallelic mutations in the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene have been identified as the cause of Ch... ...