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Articles Published Processes
9/20/2023 4:48:37 PM | Browse: 139 | Download: 381
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Received |
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2023-05-07 13:40 |
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Peer-Review Started |
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2023-05-07 13:42 |
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To Make the First Decision |
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Return for Revision |
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2023-07-03 08:22 |
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Revised |
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2023-08-08 14:55 |
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Second Decision |
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2023-08-29 02:49 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2023-08-29 09:14 |
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Articles in Press |
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2023-08-29 09:14 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2023-08-19 19:33 |
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Typeset the Manuscript |
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2023-09-08 02:32 |
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Publish the Manuscript Online |
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2023-09-20 16:48 |
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. |
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 |
Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Xu-Hang Xing, Russel Takam, Xiu-Ying Bao, Nour Abdallah Ba-alwi and Hong Ji |
ORCID |
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Funding Agency and Grant Number |
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Corresponding Author |
Hong Ji, MD, PhD, Doctor, Doctor, Professor, Department of Pediatrics, The First Part of The First Affiliated Hospital of Dalian Medical University, No. 222 Zhongshan Road, Xigang District, Dalian 116011, Liaoning Province, China. jihongsdq@126.com |
Key Words |
Methyl-CpG-binding protein 2; Neurodevelopmental Delay; Xq28 duplication; Array comparative genomic hybridization; Case report |
Core Tip |
Methyl-CpG-binding protein 2 (MECP2) duplication syndrome is a rare X-linked neurodevelopmental disorder. There is a paucity of data describing typical MECP2 syndrome cases in the literature. We describe the case of a Chinese boy with no history of seizure, recurrent infections, or bowel impairment from birth, who inherited duplication of the Xq28 region, including MECP2, from his mother who is a carrier, and discussed the clinical and genetic characteristics of this family. A lack of microduplication of genes in the Xq28 region may explain the absence of typical symptoms, which adds to previous reports of a rare genetic mutation in China. |
Publish Date |
2023-09-20 16:48 |
Citation |
Xing XH, Takam R, Bao XY, Ba-alwi NA, Ji H. Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature. World J Clin Cases 2023; 11(27): 6505-6514 |
URL |
https://www.wjgnet.com/2307-8960/full/v11/i27/6505.htm |
DOI |
https://dx.doi.org/10.12998/wjcc.v11.i27.6505 |
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