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Publication Name World Journal of Hepatology
Manuscript ID 109770
Country China
Category Gastroenterology & Hepatology
Manuscript Type Retrospective Study
Article Title Clinical characteristics and genetic causes of unexplained pediatric liver disease
Manuscript Source Unsolicited Manuscript
All Author List Yuan Chen, Zhi-Yi Wang, Bao-Qi Chen, Yu-Juan Qi, Hai-Yan Liu, Wen-Xin Shi, Lu Guo, Zhi Liu and Li-Feng Sun
Funding Agency and Grant Number
Funding Agency Grant Number
National Natural Science Foundation of China 82400641
Natural Science Foundation of Shandong Province ZR2022QH076 and ZR2021MH381
Corresponding Author Li-Feng Sun, Associate Chief Physician, Pediatric Gastroenterology Fellow, PhD, Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong First Medical University, No. 324 Jing Wu Road, Jinan 250021, Shandong Province, China. lifengsun2008@163.com
Key Words Whole-exome sequencing; Liver disease; Pediatric; Wilson's disease; Alagille syndrome
Core Tip In recent years, the number of pediatric patients with unexplained liver disease has been increasing. Whole-exome sequencing (WES) technology has played a significant role in the diagnosis; however, related studies remain limited. We found that WES significantly increased the diagnosis rate of liver diseases of unknown cause in children, guided personalized treatment, and improved prognosis. The mutation spectra of genes such as ATP7B and JAG1 provide important references for the molecular diagnosis of inherited liver diseases in Chinese children. In the future, functional studies and multi-omics integration will be required to elucidate the pathogenic mechanisms of novel variants and to advance the application of precision medicine in the field of pediatric hepatology.
Citation Chen Y, Wang ZY, Chen BQ, Qi YJ, Liu HY, Shi WX, Guo L, Liu Z, Sun LF. Clinical characteristics and genetic causes of unexplained pediatric liver disease. World J Hepatol 2025; In press
Received
2025-06-06 16:47
Peer-Review Started
2025-06-06 16:48
To Make the First Decision
Return for Revision
2025-06-13 07:03
Revised
2025-06-26 16:24
Second Decision
2025-09-29 02:34
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2025-09-29 04:09
Articles in Press
2025-09-29 04:09
Publication Fee Transferred
2025-06-28 13:36
Edit the Manuscript by Language Editor
Typeset the Manuscript
ISSN 1948-5182 (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/
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