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Articles Published Processes
7/5/2022 1:22:30 AM | Browse: 290 | Download: 737
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Received |
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2021-12-21 05:12 |
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Peer-Review Started |
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2021-12-21 05:13 |
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To Make the First Decision |
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Return for Revision |
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2022-04-08 00:27 |
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Revised |
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2022-04-15 07:22 |
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Second Decision |
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2022-05-23 03:30 |
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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 06:47 |
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Articles in Press |
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2022-05-28 06:47 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2022-05-19 10:36 |
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Typeset the Manuscript |
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2022-06-26 14:06 |
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Publish the Manuscript Online |
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2022-07-05 01:22 |
| 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: https://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 |
Urology & Nephrology |
| Manuscript Type |
Case Report |
| Article Title |
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Jia-Xi Fang, Jin-Shi Zhang, Min-Min Wang and Lin Liu |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Zhejiang Provincial Natural Science Foundation of China |
LQ19H050003 |
| General Project Funds from the Health Department of Zhejiang Province |
2020KY439 |
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| Corresponding Author |
Lin Liu, PhD, Doctor, Doctor, Department of Nephrology, Zhejiang Provincial People’s Hospital, Affiliated People’s Hospital, Hangzhou Medical College, No. 158 Shangtang Road, Hangzhou 310014, Zhejiang Province, China. colin_ll@163.com |
| Key Words |
SALL1; Gene mutation; Uraemia; Hereditary renal diseases; End stage renal disease; Case report |
| Core Tip |
We report a novel SALL1 exon 2 (c.3437delG) mutation and clinical syndrome with kidney disease, bilateral overlapping toes, unilateral dysplastic external ears and sensorineural hearing loss in a four-generation Chinese family. As patients with kidney diseases do not have specific clinical presentations, symptoms other than kidney disease were relatively hidden or easily ignored resulted in missed diagnosis. Gene sequencing is recommended in patients with family history and with extrarenal phenotypes to avoid blind use of immunosuppressive drugs, which may cause adverse effects. |
| Publish Date |
2022-07-05 01:22 |
| Citation |
Fang JX, Zhang JS, Wang MM, Liu L. Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report. World J Clin Cases 2022; 10(20): 7068-7075 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i20/7068.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i20.7068 |
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