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12/25/2019 11:24:45 AM | Browse: 484 | Download: 728
Publication Name World Journal of Clinical Cases
Manuscript ID 51170
Country China
Received
2019-09-09 08:10
Peer-Review Started
2019-09-04 14:13
To Make the First Decision
Return for Revision
2019-11-11 22:31
Revised
2019-11-22 16:27
Second Decision
2019-11-26 09:54
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2019-11-26 17:27
Articles in Press
2019-11-26 17:27
Publication Fee Transferred
Edit the Manuscript by Language Editor
2019-12-01 02:24
Typeset the Manuscript
2019-12-18 01:54
Publish the Manuscript Online
2019-12-25 11:24
ISSN 2307-8960 (online)
Open Access This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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) 2019. 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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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Medicine, Research & Experimental
Manuscript Type Case Report
Article Title Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature
Manuscript Source Unsolicited Manuscript
All Author List Sai-Nan Chen, Yu-Qing Wang, Chuang-Li Hao, Yan-Hong Lu, Wu-Jun Jiang, Chun-Yan Gao and Min Wu
ORCID
Author(s) ORCID Number
Sai-Nan Chen http://orcid.org/0000-0001-9787-6639
Yu-Qing Wang http://orcid.org/0000-0002-4153-3984
Chuang-Li Hao http://orcid.org/0000-0002-1342-8175
Yan-Hong Lu http://orcid.org/0000-0002-9447-6493
Wu-Jun Jiang http://orcid.org/0000-0002-1538-9069
Chun-Yan Gao http://orcid.org/0000-0001-6875-9652
Min Wu http://orcid.org/0000-0001-9758-9517
Funding Agency and Grant Number
Funding Agency Grant Number
National Natural Science Foundation of China 81573167
Science and Technology Project of Jiangsu BE2017657
Corresponding Author Yu-Qing Wang, MD, Chief Doctor, Department of Respiratory Medicine, Children’s Hospital of Soochow University, No. 303 Jing De Road, Suzhou 215000, Jiangsu Province, China. wang_yu_qing@126.com
Key Words Multisystem smooth muscle dysfunction syndrome; Gene mutation; Congenital mydriasis; Patent ductus arteriosus; Case report;
Core Tip Multisystem smooth muscle dysfunction syndrome (MSMDS) is a genetic disease that is clinically characterized by dysfunction of smooth muscle throughout the whole body, leading to congenital fixed dilated pupils, patent ductus arteriosus, aortic and cerebrovascular disease, hypotonic bladder, intestinal hypoperistalsis and pulmonary hypertension. MSMDS is rare in Chinese individuals. It is mostly caused by a p.R179H mutation in the actin alpha2 gene worldwide. In the present study, we reported a heterozygous mutation c.536G>A, p. R179H in a Chinese infant with MSMDS and described the clinical characteristics. In addition, we further reviewed the literature regarding MSMDS cases from the 1980s to 2018.
Publish Date 2019-12-25 11:24
Citation Chen SN, Wang YQ, Hao CL, Lu YH, Jiang WJ, Gao CY, Wu M. Multisystem smooth muscle dysfunction syndrome in a Chinese girl: A case report and review of the literature. World J Clin Cases 2019; 7(24): 4355-4365
URL https://www.wjgnet.com/2307-8960/full/v7/i24/4355.htm
DOI https://dx.doi.org/10.12998/wjcc.v7.i24.4355
Full Article (PDF) WJCC-7-4355.pdf
Full Article (Word) WJCC-7-4355.docx
CARE Checklist–2016 51170-CARE-Checklist–2016-revision_2336.pdf
Manuscript File 51170-Review_WangTQ.docx
Answering Reviewers 51170-Answering reviewers.pdf
Audio Core Tip 51170-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 51170-Conflict-of-interest statement.pdf
Copyright License Agreement 51170-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 51170-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 51170-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 51170-Language certificate.pdf
Peer-review Report 51170-Peer-review(s).pdf
Scientific Misconduct Check 51170-Scientific misconduct check.pdf
Scientific Editor Work List 51170-Scientific editor work list.pdf