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Articles Published Processes
3/2/2022 4:52:53 AM | Browse: 254 | Download: 484
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Received |
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2021-10-05 09:46 |
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Peer-Review Started |
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2021-10-05 09:48 |
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To Make the First Decision |
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Return for Revision |
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2021-11-11 08:23 |
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Revised |
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2021-11-21 16:11 |
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Second Decision |
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2022-01-17 05:39 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2022-01-20 04:31 |
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Articles in Press |
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2022-01-20 04:31 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2022-02-18 11:01 |
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Publish the Manuscript Online |
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2022-03-02 04:52 |
| 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) 2022. 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 |
Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Ping Jiang, Liang Xiao, Yuan Guo, Rong Hu, Bo-Yi Zhang and Yi He |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Yi He, MBBS, Chief Physician, Department of Cardiology, Zhuzhou Central Hospital, No. 118 South Changjiang Road, Zhuzhou 410000, Hunan Province, China. heyicardiology@163.com |
| Key Words |
Alström syndrome; Dilated cardiomyopathy; Alström syndrome 1; Missense mutation; Frameshift mutation; Case report |
| Core Tip |
We present the case of an infant with dilated cardiomyopathy (DCM) who was diagnosed with Alström syndrome at the early stage of the disease. Whole-exome sequencing revealed that a large deletion and point mutation simultaneously occurred in the Alström syndrome 1 (ALMS1) gene, leading to frameshift and missense mutations, respectively, rather than nonsense or frameshift mutations, which have been reported previously. Likewise, to date, few interpretations have been made of the related mechanism of the novel ALMS1 gene mutation to induce DCM in infants. |
| Publish Date |
2022-03-02 04:52 |
| Citation |
Jiang P, Xiao L, Guo Y, Hu R, Zhang BY, He Y. Novel mutations of the Alström syndrome 1 gene in an infant with dilated cardiomyopathy: A case report. World J Clin Cases 2022; 10(7): 2330-2335 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i7/2330.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i7.2330 |
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