Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report
Abstract Background Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromuscular signs. It is caused by mutations in VPS13A gene with autosomal rec...
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| Main Authors: | , , , , , , , , , |
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| Format: | Book |
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BMC,
2020-03-01T00:00:00Z.
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