Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report

Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromusc...

Source: BMC Medical Genetics - March 4, 2020 Category: Genetics & Stem Cells Authors: Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime and Ahmed Bouhouche Tags: Case report Source Type: research