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 Sep 26, 2024

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World Journal of Clinical Cases

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2307-8960

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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 5 Two pathological variants of CYP27A1 identified in the patient with cerebrotendinous xanthomatosis. A: c.255+1G>T; B: c.1263+1G>T.

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