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Articles Published Processes
10/21/2022 2:24:59 AM | Browse: 296 | Download: 684
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Received |
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2022-04-13 13:56 |
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Peer-Review Started |
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2022-04-13 13:57 |
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To Make the First Decision |
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Return for Revision |
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2022-07-11 09:30 |
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Revised |
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2022-07-27 00:51 |
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Second Decision |
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2022-09-13 03:39 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-09-14 03:26 |
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Articles in Press |
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2022-09-14 03:26 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2022-09-07 00:11 |
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Typeset the Manuscript |
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2022-10-08 13:06 |
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Publish the Manuscript Online |
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2022-10-21 02:24 |
| 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 |
Pediatrics |
| Manuscript Type |
Case Report |
| Article Title |
Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Hui Yang, Shuang-Zhu Lin, Shi-Hui Guan, Wan-Qi Wang, Jia-Yi Li, Gui-Dan Yang and Su-Li Zhang |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Su-Li Zhang, MD, Doctor, Doctor, Department of Neonatology, Hainan Women and Children's Medical Center, No. 15 Longkun South Road, Haikou 570100, Hainan Province, China. 18389454649@163.com |
| Key Words |
Arthrogryposis, renal dysfunction and cholestasis syndrome 1; VPS33B gene; Children; Heterozygous mutation; Case report |
| Core Tip |
We report a Chinese female infant with neonatal cholestasis disorder, who was eventually diagnosed with arthrogryposis, renal dysfunction and cholestasis syndrome 1 by genetic analysis. Genetic testing revealed two new mutations (c.96+1G>C, c.242delT) in VPS33B, which are the causal genes. The patient was compound heterozygous, and her parents were both heterozygous. Our paper will expand the mutational spectrum of VPS33B. |
| Publish Date |
2022-10-21 02:24 |
| Citation |
Yang H, Lin SZ, Guan SH, Wang WQ, Li JY, Yang GD, Zhang SL. Two novel mutations in the VPS33B gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report. World J Clin Cases 2022; 10(30): 11016-11022 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i30/11016.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i30.11016 |
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