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Articles Published Processes
1/12/2022 4:01:56 AM | Browse: 314 | Download: 899
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Received |
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2021-01-31 04:29 |
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Peer-Review Started |
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2021-01-31 04:41 |
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To Make the First Decision |
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Return for Revision |
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2021-07-16 03:27 |
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Revised |
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2021-07-19 14:45 |
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Second Decision |
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2021-12-08 07:01 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-12-10 03:00 |
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Articles in Press |
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2021-12-10 03:00 |
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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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2021-12-31 03:57 |
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Publish the Manuscript Online |
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2022-01-12 04:01 |
| 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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| 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 |
Pediatrics |
| Manuscript Type |
Case Report |
| Article Title |
Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Wen-Xin Lin, Ying-Ying Chai, Ting-Ting Huang, Xia Zhang, Guo Zheng, Gang Zhang, Fang Peng and Yanjun Huang |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Six Talent Peaks Project in Jiangsu Province |
2016-YY-055 |
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| Corresponding Author |
Yanjun Huang, PhD, Additional Professor, Chief Physician, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing 210000, Jiangsu Province, China. njhuang2013@126.com |
| Key Words |
Lissencephaly; Epilepsy; GPR56 mutations; Compound heterozygous mutations; Case report |
| Core Tip |
We report a twin infant with lissencephaly (LIS). The twins both carried the novel compound heterozygous GPR56 mutations, p.F76fs and p.H607fs, which have not been reported in the Human Gene Mutation Database. To our knowledge, this is the first case of GRP56-related LIS. Therefore, GPR56 gene mutations may lead to LIS. |
| Publish Date |
2022-01-12 04:01 |
| Citation |
Lin WX, Chai YY, Huang TT, Zhang X, Zheng G, Zhang G, Peng F, Huang YJ. Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report. World J Clin Cases 2022; 10(2): 607-617 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i2/607.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i2.607 |
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