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Articles Published Processes
6/30/2023 12:54:07 PM | Browse: 233 | Download: 744
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Received |
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2023-02-01 13:02 |
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Peer-Review Started |
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2023-02-01 13:03 |
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To Make the First Decision |
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Return for Revision |
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2023-04-19 04:00 |
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Revised |
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2023-05-05 05:44 |
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Second Decision |
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2023-05-31 03:10 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2023-05-31 07:55 |
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Articles in Press |
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2023-05-31 07:55 |
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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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2023-06-06 07:52 |
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Publish the Manuscript Online |
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2023-06-30 12:54 |
| 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) 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 |
Pediatrics |
| Manuscript Type |
Case Report |
| Article Title |
CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Jie Li, Li-Na Chen and Hai-Lan He |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| the China Foundation for International Medical Exchange, Pediatric Endocrinology Young and Middle-Aged Doctors’ Growth Research Fund |
Z-2019-41-2101-01 |
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| Corresponding Author |
Li-Na Chen, MD, Doctor, Doctor, Department of Paediatrics, Sichuan Academy of Medical Sciences, Sichuan Provincial People’s Hospital, No. 32, West Section 2, Yihuan Road, Qingyang District, Chengdu 610000, Sichuan Province, China. linachen9755@163.com |
| Key Words |
CDKN1C; Gene; Silver-Russell syndrome; Mutation; Case report |
| Core Tip |
This is the fourth reported case of familial Silver–Russell syndrome (SRS) caused by a new missense mutation in the PCNA-binding domain of CDKN1C.The SRS pedigree, which was due to missense mutation affecting the amino acid position, 279, of the PCNA-binding domain of the CDKN1C gene, resulting in the amino acid substitution p.Arg279His (c.836G>A). Five affected family members also showed SRS phenotypes (small for gestational age, proportionately severe short stature, certain facial features (protruding forehead, triangular face, micrognathia), but without limb asymmetry or adrenal insufficiency. Initial efficacy and safety of growth hormone were observed in the proband treated with growth hormone. |
| Publish Date |
2023-06-30 12:54 |
| Citation |
Li J, Chen LN, He HL. CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and literature review. World J Clin Cases 2023; 11(19): 4655-4663 |
| URL |
https://www.wjgnet.com/2307-8960/full/v11/i19/4655.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v11.i19.4655 |
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