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8/16/2023 8:27:33 AM | Browse: 140 | Download: 679
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Received |
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2023-05-04 07:24 |
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Peer-Review Started |
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2023-05-04 07:25 |
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To Make the First Decision |
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Return for Revision |
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2023-06-12 07:06 |
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Revised |
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2023-06-28 04:22 |
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Second Decision |
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2023-07-27 02:42 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2023-07-27 06:54 |
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Articles in Press |
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2023-07-27 06:54 |
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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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2023-07-31 07:24 |
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Publish the Manuscript Online |
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2023-08-16 06:59 |
| 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) 2023. 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 |
Urology & Nephrology |
| Manuscript Type |
Case Report |
| Article Title |
Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Jing Wu, Jun Zhang, Tang-Li Xiao and Ting He |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Joint Medical Project of Science and Technology Commission of Chongqing |
2021MSXM164 |
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| Corresponding Author |
Ting He, Doctor, Doctor, Doctor, Department of Nephrology, the Key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Chongqing Clinical Research Center of Kidney and Urology Diseases, Xinqiao Hospital, Army Medical University (Third Military Medical University), No. 83 Xinqiao Street, Shapingba District, Chongqing 400037, China. tingsr2000@sina.com |
| Key Words |
Townes-Brocks syndrome; SALL1; Renal impairment; Pedigree; Whole exon sequencing; Case report |
| Core Tip |
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, which is caused by the mutations of SALL1. We report a case of TBS with renal impairment in a Chinese family. TBS was suspected and a heterozygous variant of SALL1 was revealed by whole exome sequencing. The variant led to a read-frame shift of the encoded protein. The variant co-segregated with the phenotype among affected members, which suggested that the variant of SALL1 might be the molecular pathogenic basis of this disorder. |
| Publish Date |
2023-08-16 06:59 |
| Citation |
Wu J, Zhang J, Xiao TL, He T. Townes–Brocks syndrome with adult renal impairment in a Chinese family: A case report. World J Clin Cases 2023; 11(23): 5567-5572 |
| URL |
https://www.wjgnet.com/2307-8960/full/v11/i23/5567.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v11.i23.5567 |
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