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Articles Published Processes
12/19/2020 4:08:53 PM | Browse: 441 | Download: 1106
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Received |
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2020-08-28 02:36 |
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Peer-Review Started |
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2020-08-21 01:45 |
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To Make the First Decision |
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Return for Revision |
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2020-09-24 19:42 |
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Revised |
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2020-10-08 15:54 |
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Second Decision |
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2020-10-23 07:14 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2020-10-26 04:14 |
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Articles in Press |
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2020-10-26 04:14 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2020-10-29 21:47 |
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Typeset the Manuscript |
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2020-12-14 03:32 |
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Publish the Manuscript Online |
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2020-12-19 16:08 |
| 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) 2020. 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 mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Jin-Rong Li, Zhuo Huang, You Lu, Qiao-Yun Ji, Ming-Yan Jiang and Fan Yang |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Health and Family Planning Commission of Sichuan Province |
150106 |
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| Corresponding Author |
Ming-Yan Jiang, MD, Physiotherapist, Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20, Section 3, South Renmin Road, Chengdu 610041, Sichuan Province, China. jiangmy0904@qq.com |
| Key Words |
Bainbridge-ropers syndrome; ASXL3 mutation; Whole-exome sequencing; Case report; ; |
| Core Tip |
This report introduces a Chinese boy referred to our hospital mainly due to progressive postnatal microcephaly and intellectual disability with severe speech impairment. A novel pathogenic mutation (c.1795G>T; p.E599*) was detected in the patient by trio-based whole exome sequencing. The proband’s clinical features largely conformed to the reported bainbridge-ropers syndrome patients in the literature. These clinical and genetic findings contributed to improve our understanding of bainbridge-ropers syndrome and also aided in the definitive diagnosis and genetic counseling for this family. |
| Publish Date |
2020-12-19 16:08 |
| Citation |
Li JR, Huang Z, Lu Y, Ji QY, Jiang MY, Yang F. Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report. World J Clin Cases 2020; 8(24): 6465-6472 |
| URL |
https://www.wjgnet.com/2307-8960/full/v8/i24/6465.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v8.i24.6465 |
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