Article

Clinical Characteristics and Genotype-Phenotype Correlation Analysis of 19 Cases of Alagille Syndrome

2026-06-05

Abstract excerpt

<title>Abstract</title> <p> <bold>Background & Aims:</bold> Alagille syndrome (ALGS) is an autosomal dominant disorder caused by JAG1 or NOTCH2 mutations and is the leading genetic cause of pediatric cholestatic liver disease. ALGS shows marked phenotypic heterogeneity and frequent misdiagnosis, with incompletely defined genotype–phenotype correlations. Although the ileal bile acid transporter (IBAT) inhibitors...

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Literature Corpus work: a16a8ef8-4a19-5e9a-a5f4-9257dd5bef6d
DOI: 10.21203/rs.3.rs-9517428/v1

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