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1/12/2022 6:08:58 AM | Browse: 45 | Download: 38
Publication Name World Journal of Clinical Cases
Manuscript ID 62967
Country/Territory China
2021-01-31 04:29
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2021-12-08 07:01
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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.
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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
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
Funding Agency and Grant Number
Funding Agency Grant Number
Six Talent Peaks Project in Jiangsu Province 2016-YY-055
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, 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
Full Article (PDF) WJCC-10-607.pdf
Full Article (Word) WJCC-10-607.docx
Manuscript File 62967_Auto_Edited.docx
Answering Reviewers 62967-Answering reviewers.pdf
Audio Core Tip 62967-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 62967-Conflict-of-interest statement.pdf
Copyright License Agreement 62967-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 62967-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 62967-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 62967-Language certificate.pdf
Peer-review Report 62967-Peer-review(s).pdf
Scientific Misconduct Check 62967-Bing-Gong ZM-1.png
Scientific Editor Work List 62967-Scientific editor work list.pdf