Associated Papers
A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.
Perrone B et al.
International Journal of Molecular Sciences, 2025
41373679 (PubMed )
Supplement: ijms-26-11521-s001.zip › ijms-3917049-supplementary.pdf
Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-Acanthocytosis.
Yu H et al.
Molecular Genetics & Genomic Medicine, 2024
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.
Vaisfeld A et al.
Genes, 2021
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