Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report

doi:10.12998/wjcc.v10.i29.10681

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Oct 16, 2022 (publication date) through Jan 2, 2025

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World Journal of Clinical Cases

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Oct 16, 2022; 10(29): 10681-10688
Published online Oct 16, 2022. doi: 10.12998/wjcc.v10.i29.10681

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Figure 1 Magnetic resonance imaging results showed prominent bilateral cerebellar lesions of dentate nuclei. A: T2-weighted images; B: FLAIR images; Sagittal T1-weight images and axial T2-weight image sequence showed atrophy of bilateral cerebellar; C: Sagittal T1-weighted images; D: Axial T2-weighted image.

Citation: Chang YY, Yu CQ, Zhu L. Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255+1G>T splice site mutation: A case report . World J Clin Cases 2022; 10(29): 10681-10688
URL: https://www.wjgnet.com/2307-8960/full/v10/i29/10681.htm
DOI: https://dx.doi.org/10.12998/wjcc.v10.i29.10681