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Publication Name World Journal of Hepatology
Manuscript ID 113485
Country India
Received
2025-08-28 00:09
Peer-Review Started
2025-08-28 00:10
First Decision by Editorial Office Director
2025-09-17 08:54
Return for Revision
2025-09-18 04:25
Revised
2025-09-28 10:09
Publication Fee Transferred
Second Decision by Editor
2025-12-08 02:38
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2025-12-08 08:25
Articles in Press
2025-12-08 08:25
Edit the Manuscript by Language Editor
Typeset the Manuscript
2026-01-13 03:42
Publish the Manuscript Online
2026-01-27 10:12
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/
Copyright © The Author(s) 2025. 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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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Gastroenterology & Hepatology
Manuscript Type Retrospective Study
Article Title Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort
Manuscript Source Unsolicited Manuscript
All Author List Chennakeshava Thunga, Suvradeep Mitra, Alisha Babbar, Raghav Lal, Arnab Pal, Nandita Kakkar and Sadhna Bhasin Lal
ORCID
Author(s) ORCID Number
Suvradeep Mitra http://orcid.org/0000-0002-5520-8306
Sadhna Bhasin Lal http://orcid.org/0000-0003-0908-3650
Funding Agency and Grant Number
Corresponding Author Sadhna Bhasin Lal, Head, Professor, Department of Paediatric Gastroenterology and Hepatology, Post Graduate Institute of Medical Education and Research, Sector 12, Chandigarh 160012, India. sadhnalal2014@gmail.com
Key Words ABCB4; Monoallelic mutation; Biallelic mutation; Progressive familial intrahepatic cholestasis type 3; Chronic liver disease; Decompensation; End-stage liver disease; Portal hypertension; Sclerosing cholangitis
Core Tip Patients with ABCB4 mutations continue to pose an enigma for clinicians, and understanding of the varied manifestations continues to evolve. Children with biallelic mutations had a progressive disease with ascites, larger varices and decompensation. Children with monoallelic mutations fare better with significantly better liver function in follow-up; however, the risk of disease progression and decompensation remains and needs close monitoring. Protein-truncating mutations and missense mutations in highly conserved domains are associated with early disease progression. Early genetic testing and family screening may help in tailoring treatment and prognostication.
Publish Date 2026-01-27 10:12
Citation

Thunga C, Mitra S, Babbar A, Lal R, Pal A, Kakkar N, Lal SB. Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort. World J Hepatol 2026; 18(1): 113485

URL https://www.wjgnet.com/1948-5182/full/v18/i1/113485.htm
DOI https://dx.doi.org/10.4254/wjh.v18.i1.113485
Full Article (PDF) WJH-18-113485-with-cover.pdf
Manuscript File 113485_Auto_Edited_021330.docx
Answering Reviewers 113485-answering-reviewers.pdf
Audio Core Tip 113485-audio.aac
Biostatistics Review Certificate 113485-biostatistics-statement.pdf
Conflict-of-Interest Disclosure Form 113485-conflict-of-interest-statement.pdf
Copyright License Agreement 113485-copyright-assignment.pdf
Signed Informed Consent Form(s) or Document(s) 113485-informed-consent-statement.pdf
Institutional Review Board Approval Form or Document 113485-institutional-review-board-statement.pdf
Non-Native Speakers of English Editing Certificate 113485-non-native-speakers.pdf
Supplementary Material 113485-supplementary-material.pdf
Peer-review Report 113485-peer-reviews.pdf
Scientific Misconduct Check 113485-scientific-misconduct-check.png
Scientific Editor Work List 113485-scientific-editor-work-list.pdf
CrossCheck Report 113485-crosscheck-report.pdf