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Article

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype.

Tremor and other hyperkinetic movements (New York, N.Y.) - 1 Jan 2018

Groth Christopher L, Berman Brian D

Abstract excerpt

Background: Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities. SCA27 is a recently identified SCA caused by mutations in the Fibroblast Growth Factor 14 gene, with a phenotypic expression that is only beginning to be fully appreciated. We report...

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PMID: 29416937
DOI: 10.7916/D80S0ZJQ
PMCID: PMC5801325

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