Clinical spectrum and genotype-phenotype correlation of <i>ABCB4</i> mutations in children: Insights from a North Indian cohort

Mutations in the <i>ABCB4</i> gene contribute significantly to pediatric chronic liver disease. Patients with severe biallelic mutations frequently experience a progressive disease course, whereas those with monoallelic mutations may progress slowly. Genetic testing for <i>ABCB4</i> should be considered in children with cryptogenic chronic liver disease, especially those with high gamma-glutamyltransferase cholestasis and portal hypertension.