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Articles Published Processes
12/25/2019 11:24:45 AM | Browse: 586 | Download: 1085
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Received |
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2019-09-09 08:10 |
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Peer-Review Started |
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2019-09-04 14:13 |
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To Make the First Decision |
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Return for Revision |
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2019-11-11 22:31 |
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Revised |
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2019-11-22 16:27 |
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Second Decision |
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2019-11-26 09:54 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2019-11-26 17:27 |
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Articles in Press |
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2019-11-26 17:27 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2019-12-01 02:24 |
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Typeset the Manuscript |
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2019-12-18 01:54 |
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Publish the Manuscript Online |
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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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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 |
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
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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 |
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Funding Agency and Grant Number |
Funding Agency |
Grant Number |
National Natural Science Foundation of China |
81573167 |
Science and Technology Project of Jiangsu |
BE2017657 |
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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 |
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