| 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) 2024. Published by Baishideng Publishing Group Inc. All rights reserved. |
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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 |
Orthopedics |
| Manuscript Type |
Case Report |
| Article Title |
3M syndrome patient with a novel mutation: A case report
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Ming-Ran Luo, Si-Ming Dai, Yin Li, Qian Wang, Hao Liu, Peng Gao, Jia-Yun Liu, Jian Chen, Shu-Jie Zhao and Guo-Yong Yin |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Natural Science Foundation of China (General Program) |
81772351 |
| National Natural Science Foundation of China (General Program) |
81772352 |
| National Natural Science Foundation of China (Key Program) |
81520108018 |
|
| Corresponding Author |
Guo-Yong Yin, Professor, Department of Orthopedic, The First Affiliated Hospital of Nanjing Medical University, No. 300 Guangzhou Road, Nanjing 210029, Jiangsu Province, China. guoyong_yin@sina.com |
| Key Words |
3M syndrome; Cullin7; Obscurin-like 1; Coiled-coil domain containing 8; Autosomal recessive; Case report |
| Core Tip |
3M syndrome, a rare autosomal recessive genetic disease. This condition is characterized by severe intrauterine and postnatal growth retardation. Children with 3M syndrome typically exhibit short stature, facial deformities, long tubular bones, and high vertebral bodies, while generally lacking mental abnormalities or other organ damage. The pathogenic genes associated with 3M syndrome include Cullin7, Obscurin-Like1 (OBSL1), and Coiled-coil domain containing 8. When encountering patients with short stature and dysmorphic features alongside normal intelligence, it is essential to consider 3M syndrome as a differential diagnosis. Our study has identified a new variant in the OBSL1 gene, contributing to the expanding molecular profile of 3M syndrome. |
| Publish Date |
2024-03-12 06:10 |
| Citation |
Luo MR, Dai SM, Li Y, Wang Q, Liu H, Gao P, Liu JY, Chen J, Zhao SJ, Yin GY. 3M syndrome patient with a novel mutation: A case report. World J Clin Cases 2024; 12(8): 1454-1460 |
| URL |
https://www.wjgnet.com/2307-8960/full/v12/i8/1454.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v12.i8.1454 |
