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7/21/2021 8:24:11 AM | Browse: 13 | Download: 14
Publication Name World Journal of Clinical Cases
Manuscript ID 65790
Country/Territory China
Received
2021-03-16 06:09
Peer-Review Started
2021-03-16 06:37
To Make the First Decision
Return for Revision
2021-04-24 03:21
Revised
2021-05-04 06:56
Second Decision
2021-05-18 14:36
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-05-18 22:35
Articles in Press
2021-05-18 22:35
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-05-22 02:05
Typeset the Manuscript
2021-07-15 00:47
Publish the Manuscript Online
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
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Genetics and 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
Manuscript Source Unsolicited Manuscript
All Author List Yan-Yan Zhu, Gui-Lian Sun and Zhi-Liang Yang
ORCID
Author(s) ORCID Number
Yan-Yan Zhu http://orcid.org/0000-0002-0846-1309
Gui-Lian Sun http://orcid.org/0000-0002-7725-5955
Zhi-Liang Yang http://orcid.org/0000-0002-7098-2519
Funding Agency and Grant Number
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
Full Article (PDF) WJCC-9-6081.pdf
Full Article (Word) WJCC-9-6081.docx
Manuscript File 65790-Review-FilipodiaCL.docx
Answering Reviewers 65790-Answering reviewers.pdf
Audio Core Tip 65790-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 65790-Conflict-of-interest statement.pdf
Copyright License Agreement 65790-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 65790-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 65790-Language certificate.pdf
Peer-review Report 65790-Peer-review(s).pdf
Scientific Misconduct Check 65790-CrossCheck.png
Scientific Misconduct Check 65790-Scientific misconduct check.pdf
Scientific Misconduct Check 65790-Bing-Gong ZM-2.png
Scientific Editor Work List 65790-Scientific editor work list.pdf