Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation

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Bibliographic Details
Published in:Movement disorders clinical practice (Hoboken, N.J.) N.J.), 2021-02, Vol.8 (2), p.275-278
Main Authors: Haeri, Ghazal, Hajiakhoundi, Fahimeh, Alavi, Afagh, Ghiasi, Maryam, Munhoz, Renato P., Rohani, Mohammad
Format: Article
Language:English
Subjects:
ELOVL fatty acid elongase 4
ELOVL4
hot cross bun sign
ichthyosis
Letters: Genotype and Phenotype
myoclonus
SCA34
spinocerebellar ataxia
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ISSN:2330-1619
2330-1619
DOI:10.1002/mdc3.13123