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Articles Published Processes
7/21/2021 8:24:11 AM | Browse: 334 | Download: 836
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Received |
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2021-03-16 06:09 |
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Peer-Review Started |
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2021-03-16 06:37 |
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To Make the First Decision |
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Return for Revision |
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2021-04-24 03:21 |
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Revised |
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2021-05-04 06:56 |
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Second Decision |
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2021-05-18 14:36 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-05-18 22:35 |
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Articles in Press |
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2021-05-18 22:35 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-05-22 02:05 |
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Typeset the Manuscript |
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2021-07-15 00:47 |
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Publish the Manuscript Online |
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2021-07-21 08:24 |
| 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) 2021. 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 |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Yan-Yan Zhu, Gui-Lian Sun and Zhi-Liang Yang |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Zhi-Liang Yang, MD, PhD, Attending Doctor, Chief Doctor, Department of Pediatrics, The First Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang 110001, Liaoning Province, China. sizhewujiu@163.com |
| Key Words |
Special AT-rich sequence binding protein 2; SATB2-associated syndrome; Global developmental delay; Developmental speech and language delay; Case report |
| Core Tip |
Our findings contribute to a growing list SATB2 mutations associated with special AT-rich sequence binding protein 2 (SATB2)-associated syndrome (SAS), which is a rare autosomal dominant disorder. The diagnosis was quite challenging when only developmental delays occurred without other manifestations. The heterogeneous manifestations can be induced by complicated pathogenic involvements and functions of SATB2 from reviewed literatures: (1) SATB2 haploinsufficiency; (2) The interference of truncated SATB2 protein to wild-type SATB2; and (3) Different numerous genes regulated by SATB2 in brain and skeletal development in different developmental stages. We think our case can help the practitioners to learn more about SAS. |
| Publish Date |
2021-07-21 08:24 |
| Citation |
Zhu YY, Sun GL, Yang ZL. SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review. World J Clin Cases 2021; 9(21): 6081-6090 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i21/6081.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i21.6081 |
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