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Articles Published Processes
1/24/2022 8:11:16 AM | Browse: 348 | Download: 926
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Received |
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2021-09-03 12:34 |
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Peer-Review Started |
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2021-09-03 12:38 |
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To Make the First Decision |
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Return for Revision |
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2021-11-11 08:05 |
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Revised |
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2021-11-22 05:47 |
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Second Decision |
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2021-12-24 04:45 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-12-25 19:28 |
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Articles in Press |
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2021-12-25 19:28 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2022-01-14 08:15 |
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Publish the Manuscript Online |
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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
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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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 |
Medicine, General & Internal |
| Manuscript Type |
Case Report |
| Article Title |
Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report
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| 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 |
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| Funding Agency and Grant Number |
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| 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 |
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