ATP8A2-Related Disorder: Beyond Cerebellar Ataxia
- PMID: 37635783
- PMCID: PMC10450237
- DOI: 10.1002/mdc3.13820
ATP8A2-Related Disorder: Beyond Cerebellar Ataxia
Keywords: ATP8A2; cerebellar ataxia; chorea; optic atrophy; ptosis.
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References
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- Heidari E, Harrison AN, Jafarinia E, Almadani N, Molday RS, Garshasbi M. Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum. Hum Mutat 2021;42:491–497. - PubMed
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