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Articles in Press
3/17/2023 7:01:12 AM | Browse: 54 | Download: 0
| Publication Name |
World Journal of Clinical Cases |
| Manuscript ID |
79272 |
| Country/Territory |
China |
| Category |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Aicardi-Goutières syndrome type 7 in a Chinese child: A case report
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| 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 |
| Funding Agency and Grant Number |
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| 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. |
| 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 |
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Received |
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2022-08-13 05:24 |
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Peer-Review Started |
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2022-08-13 05:26 |
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To Make the First Decision |
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Return for Revision |
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2022-11-11 02:07 |
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Revised |
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2023-02-22 15:58 |
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Second Decision |
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2023-03-17 02:39 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2023-03-17 07:01 |
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Articles in Press |
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2023-03-17 07:01 |
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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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2023-03-26 16:26 |
| 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. |
| 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 |
| Assistant Editor |
Assistant Editor |
| Science Editor |
Ze-Mao Gong |
| Reviewer Code |
05811191 |
| Editorial Director |
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| Journal Chief Editor |
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| Company Chief Editor |
Jin-Lei Wang |
| Language Editor |
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| Production Editor |
Ying-Yi Yuan |
| Responsible Production Editor |
Hua-Ge Yu |
| Responsible Science Editor |
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| Proofing Editorial Director |
Jin-Lei Wang |
| Proofing Editor-in-Chief |
Lian-Sheng Ma |
© 2004-2023 Baishideng Publishing Group Inc. All rights reserved. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
California Corporate Number: 3537345
