BPG is committed to discovery and dissemination of knowledge
Articles Published Processes
1/24/2022 8:11:16 AM | Browse: 250 | Download: 509
Publication Name World Journal of Clinical Cases
Manuscript ID 71314
Country China
Received
2021-09-03 12:34
Peer-Review Started
2021-09-03 12:38
To Make the First Decision
Return for Revision
2021-11-11 08:05
Revised
2021-11-22 05:47
Second Decision
2021-12-24 04:45
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-12-25 19:28
Articles in Press
2021-12-25 19:28
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2022-01-14 08:15
Publish the Manuscript Online
2022-01-24 08:11
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) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Medicine, General & Internal
Manuscript Type Case Report
Article Title Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report
Manuscript Source Unsolicited Manuscript
All Author List Li-Ping Wang, Hou-Zhong Luo, Mao Song, Zuo-Zhen Yang, Fan Yang, Yun-Tao Cao and Juan Chen
ORCID
Author(s) ORCID Number
Li-Ping Wang http://orcid.org/0000-0001-7179-7641
Hou-Zhong Luo http://orcid.org/0000-0001-9575-307X
Mao Song http://orcid.org/0000-0003-0554-8860
Zuo-Zhen Yang http://orcid.org/0000-0002-2162-6286
Fan Yang http://orcid.org/0000-0001-5219-5258
Yun-Tao Cao http://orcid.org/0000-0003-4757-8451
Juan Chen http://orcid.org/0000-0002-1478-688X
Funding Agency and Grant Number
Corresponding Author Juan Chen, MM, Chief Doctor, Department of Neonatology, Affiliated Hospital of Zunyi Medical University, No. 149 Dalian Road, Huichuan District, Zunyi 563000, Guizhou Province, China. chenjuan0852@126.com
Key Words OTC; Ornithine transcarbamylase deficiency; Deletion variant; Exome sequencing; Early translation termination; Case report
Core Tip In this study, we introduce one boy with ornithine transcarbamylase deficiency caused by an unreported hemizygous variant of OTC gene. Our study delivered the importance of OTC gene testing in metabolism disease. We believe that our study will inspire more doctors to apply genetics testing when facing complex clinical features for neonatal cases.
Publish Date 2022-01-24 08:11
Citation Wang LP, Luo HZ, Song M, Yang ZZ, Yang F, Cao YT, Chen J. Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report. World J Clin Cases 2022; 10(4): 1417-1422
URL https://www.wjgnet.com/2307-8960/full/v10/i4/1417.htm
DOI https://dx.doi.org/10.12998/wjcc.v10.i4.1417
Full Article (PDF) WJCC-10-1417.pdf
Full Article (Word) WJCC-10-1417.docx
CARE Checklist–2016 71314-CARE-Checklist–2016-revision.jpeg
Manuscript File 71314_Auto_Edited.docx
Answering Reviewers 71314-Answering reviewers.pdf
Audio Core Tip 71314-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 71314-Conflict-of-interest statement.pdf
Copyright License Agreement 71314-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 71314-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 71314-Language certificate.pdf
Peer-review Report 71314-Peer-review(s).pdf
Scientific Misconduct Check 71314-Bing-Fan JR-2.png
Scientific Editor Work List 71314-Scientific editor work list.pdf