Publication Name	World Journal of Hepatology
Manuscript ID	113485
Country	India

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
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.
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 2025; In press

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

ISSN	1948-5182 (online)
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