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4/6/2023 10:35:23 AM | Browse: 96 | Download: 215
Publication Name World Journal of Clinical Cases
Manuscript ID 79272
Country China
Received
2022-08-13 05:24
Peer-Review Started
2022-08-13 05:26
To Make the First Decision
Return for Revision
2022-11-11 02:07
Revised
2023-02-22 15:58
Second Decision
2023-03-17 02:39
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2023-03-17 07:01
Articles in Press
2023-03-17 07:01
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2023-03-26 16:26
Publish the Manuscript Online
2023-04-06 10:35
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) 2023. 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 Genetics & Heredity
Manuscript Type Case Report
Article Title Aicardi-Goutières syndrome type 7 in a Chinese child: A case report
Manuscript Source Unsolicited Manuscript
All Author List Shuang-Zhu Lin, Jing-Jing Yang, Tian-Long Xie, Jia-Yi Li, Jia-Qi Ma, Si Wu, Na Wang and Yong-Ji Wang
ORCID
Author(s) ORCID Number
Shuang-Zhu Lin http://orcid.org/0000-0001-5333-2138
Jia-Yi Li http://orcid.org/0000-0002-7729-4479
Yong-Ji Wang http://orcid.org/0000-0001-7222-5645
Funding Agency and Grant Number
Corresponding Author Yong-Ji Wang, MD, Professor, Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, No. 185, Shenzhen Street, Nanguan Economic and Technological Development Zone, Changchun 130021, Jilin Province, China. 18943188651@189.cn
Key Words Aicardi-Goutières syndrome type 7; IFIH1 gene; Children; Case report
Core Tip We report a 5-year-old girl with Aicardi-Goutières syndrome type 7. The clinical characteristics included postnatal height and weight retardation, delayed language development, brain atrophy, convulsions, and growth hormone deficiency. Whole exome test showed c.1093A>G (p.Lys365Glu) and heterozygous mutation in IFIH1 gene, and the mutation source was her father. This report provides a molecular basis for etiological diagnosis and treatment of the child, as well as for genetic counseling for the pedigree.
Publish Date 2023-04-06 10:35
Citation Lin SZ, Yang JJ, Xie TL, Li JY, Ma JQ, Wu S, Wang N, Wang YJ. Aicardi-Goutières syndrome type 7 in a Chinese child: A case report. World J Clin Cases 2023; 11(11): 2452-2456
URL https://www.wjgnet.com/2307-8960/full/v11/i11/2452.htm
DOI https://dx.doi.org/10.12998/wjcc.v11.i11.2452
Full Article (PDF) WJCC-11-2452.pdf
Full Article (Word) WJCC-11-2452.docx
CARE Checklist–2016 79272-CARE-Checklist–2016-revision.pdf
Manuscript File 79272_Auto_Edited-JLW.docx
Answering Reviewers 79272-Answering Reviewers.pdf
Audio Core Tip 79272-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 79272-Conflict-of-interest statement.pdf
Copyright License Agreement 79272-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 79272-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 79272-Language certificate.pdf
Peer-review Report 79272-Peer-review(s).pdf
Scientific Misconduct Check 79272-CrossCheck.jpg
Scientific Misconduct Check 79272-Bing-Gong ZM-2.jpg
Scientific Editor Work List 79272-Scientific editor work list.pdf