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9/29/2022 9:17:29 AM | Browse: 144 | Download: 396
Publication Name World Journal of Clinical Cases
Manuscript ID 77386
Country/Territory China
Received
2022-04-27 11:41
Peer-Review Started
2022-04-27 11:43
To Make the First Decision
Return for Revision
2022-06-27 08:26
Revised
2022-07-09 13:59
Second Decision
2022-09-06 03:20
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2022-09-07 23:35
Articles in Press
2022-09-07 23:35
Publication Fee Transferred
Edit the Manuscript by Language Editor
2022-09-01 03:38
Typeset the Manuscript
2022-09-11 09:08
Publish the Manuscript Online
2022-09-29 09:17
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: http://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 Clinical Neurology
Manuscript Type Case Report
Article Title Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255 + 1G > T splice site mutation: A case report
Manuscript Source Unsolicited Manuscript
All Author List Yue-Yue Chang, Chuan-Qing Yu and Lei Zhu
ORCID
Author(s) ORCID Number
Chuan-Qing Yu http://orcid.org/0000-0001-8744-3186
Lei Zhu http://orcid.org/0000-0003-1299-3655
Funding Agency and Grant Number
Funding Agency Grant Number
Key project of Education Department of Anhui Province KJ2019A0096
Huainan science and technology planning project 2016A26(3)
Project Research Fund of Anhui University of Science and Technology fsyyyb2020-03
Corresponding Author Chuan-Qing Yu, MD, Chief Doctor, Department of Neurology, The First Affiliated Hospital of Anhui University of Science and Technology, First People’s Hospital of Huainan, No. 203 Road, Huainan 232007, Anhui Province, China. yuchuanqing1969@126.com
Key Words Cerebrotendinous xanthomatosis; CYP27A1 gene; Ataxia; Juvenile cataracts; Tendon xanthoma; Lipid metabolism; Case report
Core Tip Our study was to screen in a case delayed diagnosis to result in severe neurological impairment with cerebrotendinous xanthomatosis (CTX) for CYP27A1 gene mutation, and detected one rare mutation and one known mutation. CTX imultidisciplinary diagnosis that must be made early to avoid neurologic injury and worsening. This finding also provides new data for further revealing the pathogenesis of xanthomatosis, enriching the pathogenic mutation spectrum of CYP27A1 gene and molecular diagnosis of the disease, which is of great significance for fertility guidance and prenatal diagnosis of this patient in the future.
Publish Date 2022-09-29 09:17
Citation Chang YY, Yu CQ, Zhu L. Progressive ataxia of cerebrotendinous xanthomatosis with a rare c.255 + 1G > T splice site mutation in the CYP27A1 gene: 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
Full Article (PDF) WJCC-10-10681.pdf
Full Article (Word) WJCC-10-10681.docx
Manuscript File 77386_Auto_Edited-YXJW-FilipodiaCL-LS.docx
Answering Reviewers 77386-Answering reviewers.pdf
Audio Core Tip 77386-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 77386-Conflict-of-interest statement.pdf
Copyright License Agreement 77386-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 77386-Grant application form(s).pdf
Signed Consent for Treatment Form(s) or Document(s) 77386-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 77386-Language certificate.pdf
Peer-review Report 77386-Peer-review(s).pdf
Scientific Misconduct Check 77386-Bing-Wu YXJ-2.png
Scientific Editor Work List 77386-Scientific editor work list.pdf