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Articles Published Processes
7/11/2022 8:36:01 AM | Browse: 345 | Download: 835
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Received |
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2021-12-04 08:19 |
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Peer-Review Started |
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2021-12-04 08:21 |
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To Make the First Decision |
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Return for Revision |
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2022-01-25 07:55 |
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Revised |
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2022-01-27 13:27 |
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Second Decision |
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2022-05-24 03:20 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-05-28 06:50 |
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Articles in Press |
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2022-05-28 06:50 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2022-06-08 04:01 |
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Typeset the Manuscript |
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2022-06-17 00:51 |
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Publish the Manuscript Online |
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2022-07-11 08:36 |
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 |
Endocrinology & Metabolism |
Manuscript Type |
Case Report |
Article Title |
Novel SLC12A3 compound heterozygous mutation in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Yong-Zhang Qin, Yan-Ming Liu, Yang Wang, Cong You, Long-Nian Li, Xue-Yan Zhou, Wei-Min Lv, Shi-Hua Hong and Li-Xia Xiao |
ORCID |
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Funding Agency and Grant Number |
Funding Agency |
Grant Number |
Science and Technology Plan of Health Commission of Jiangxi Province |
202130648 |
Science and Technology Research Project of Department of Education of Jiangxi Province |
GJJ201522 |
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Corresponding Author |
Li-Xia Xiao, MD, Associate Chief Physician, Department of Endocrinology, The First Affiliated Hospital of Gannan Medical University, No. 128 Jinling Road, Ganzhou 341000, Jiangxi Province, China. xlx981107@163.com |
Key Words |
SLC12A3; Gitelman syndrome; Hyperthyroidism; Hypokalemia; Gene sequencing; Case report |
Core Tip |
In the present study, we report a patient with hyperthyroidism who was diagnosed with Gitelman syndrome (GS) through genome sequencing. We identified a novel compound heterozygous mutation in SLC12A3. Protein molecular modeling was performed to predict the effects of the identified missense mutations, which cause changes in protein structure and may result in abnormal protein function. All previously reported cases of GS coexisting with autoimmune thyroid disease were reviewed. |
Publish Date |
2022-07-11 08:36 |
Citation |
Qin YZ, Liu YM, Wang Y, You C, Li LN, Zhou XY, Lv WM, Hong SH, Xiao LX. Novel compound heterozygous mutation of SLC12A3 in Gitelman syndrome co-existent with hyperthyroidism: A case report and literature review. World J Clin Cases 2022; 10(21): 7483-7494 |
URL |
https://www.wjgnet.com/2307-8960/full/v10/i21/7483.htm |
DOI |
https://dx.doi.org/10.12998/wjcc.v10.i21.7483 |
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