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Articles Published Processes
2/23/2022 3:51:55 PM | Browse: 204 | Download: 425
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Received |
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2021-07-15 00:15 |
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Peer-Review Started |
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2021-07-15 00:21 |
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To Make the First Decision |
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Return for Revision |
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2021-11-11 03:07 |
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Revised |
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2021-11-16 03:04 |
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Second Decision |
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2022-01-11 03:44 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Company Editor-in-Chief |
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2022-01-11 19:50 |
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Articles in Press |
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2022-01-11 19:50 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-12-22 07:03 |
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Typeset the Manuscript |
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2022-01-25 13:46 |
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Publish the Manuscript Online |
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2022-02-23 15:51 |
| 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 |
Pediatrics |
| Manuscript Type |
Case Report |
| Article Title |
Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Shuang-Zhu Lin, Jin-Hua Feng, Li-Ping Sun, Hong-Wei Ma, Wan-Qi Wang and Jia-Yi Li |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Natural Science Foundation of Jilin Province |
20200201486JC |
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| Corresponding Author |
Shuang-Zhu Lin, MD, Doctor, Diagnosis and Treatment Center for Children, First Affiliated Hospital to Changchun University of Chinese Medicine, No. 1478, Gongnong Road, Chaoyang District, Changchun City, Changchun 130021, Jilin Province, China. 61858@163.com |
| Key Words |
Alazami-Yuan syndrome; TAF6; Children; Cornelia de Lange syndrome; Case report |
| Core Tip |
We report an 11-year-old boy with Alazami-Yuan syndrome. The main clinical manifestations were rapid development of puberty, typical facial features of Cornelia de Lange syndrome, and normal intelligence. DNA sequencing test showed that there was a compound heterozygous mutation of c.1052delT and c.76A>T in the TATA-Box Binding Protein Associated Factor 6 (TAF6) gene. This study extends the mutation spectrum of the TAF6 gene, and provides a molecular basis for the etiological diagnosis of Alazami-Yuan syndrome and genetic consultation for the family. |
| Publish Date |
2022-02-23 15:51 |
| Citation |
Lin SZ, Feng JH, Sun LP, Ma HW, Wang WQ, Li JY. Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report. World J Clin Cases 2022; 10(6): 1889-1895 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i6/1889.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i6.1889 |
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