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6/17/2022 3:19:26 AM | Browse: 146 | Download: 287
Publication Name World Journal of Clinical Cases
Manuscript ID 72923
Country China
Received
2021-11-04 14:38
Peer-Review Started
2021-11-04 14:40
To Make the First Decision
Return for Revision
2022-03-07 02:08
Revised
2022-03-15 16:06
Second Decision
2022-04-14 02:11
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2022-04-21 17:24
Articles in Press
2022-04-21 17:24
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2022-05-25 04:12
Publish the Manuscript Online
2022-06-17 03:19
ISSN 2307-8960 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Neurosciences
Manuscript Type Case Report
Article Title CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report
Manuscript Source Unsolicited Manuscript
All Author List Zhao-Ran Li, Yu-Ling Zhou, Qi Jin, Yin-Yin Xie and Hong-Mei Meng
ORCID
Author(s) ORCID Number
Zhao-Ran Li http://orcid.org/0000-0002-0048-8398
Yu-Ling Zhou http://orcid.org/0000-0002-9155-111X
Qi Jin http://orcid.org/0000-0002-5966-9118
Yin-Yin Xie http://orcid.org/0000-0002-8749-2831
Hong-Mei Meng http://orcid.org/0000-0001-6418-7300
Funding Agency and Grant Number
Corresponding Author Hong-Mei Meng, PhD, Doctor, Department of Neurology, The First Hospital of Jilin University, No. 71 Xinmin Street, Chaoyang District, Changchun 130000, Jilin Province, China. menghm@jlu.edu.cn
Key Words Cerebrotendinous xanthomatosis; CYP27A1; Sterol 27-hydroxylase; c.380G>; c.1563dupA; Case report
Core Tip Cerebrotendinous xanthomatosis (CTX) is a rare disease for which prompt diagnosis and treatment improve patient outcomes. In addition, unreported new mutation and previously reported mutation were found in this patient. Thus, it provides new data for the further study of the pathogenesis of CTX and enriches the pathogenic mutation spectrum of CYP27A1.
Publish Date 2022-06-17 03:19
Citation Li ZR, Zhou YL, Jin Q, Xie YY, Meng HM. CYP27A1 mutation in a case of cerebrotendinous xanthomatosis: A case report. World J Clin Cases 2022; 10(18): 6168-6174
URL https://www.wjgnet.com/2307-8960/full/v10/i18/6168.htm
DOI https://dx.doi.org/10.12998/wjcc.v10.i18.6168
Full Article (PDF) WJCC-10-6168.pdf
Full Article (Word) WJCC-10-6168.docx
Manuscript File 72923_Auto_Edited-YJM.docx
Answering Reviewers 72923-Answering reviewers.pdf
Audio Core Tip 72923-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 72923-Conflict-of-interest statement.pdf
Copyright License Agreement 72923-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 72923-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 72923-Language certificate.pdf
Peer-review Report 72923-Peer-review(s).pdf
Scientific Editor Work List 72923-Scientific editor work list.pdf