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Alagille Syndrome: Unraveling the Complexities of Genotype–Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment

5 Mar 2025

Abstract excerpt

Alagille syndrome (ALGS) is a rare genetic disorder caused by mutations in the JAG1 and NOTCH2 genes, leading to a wide range of clinical manifestations. This review explores the complex genetic and clinical landscape of ALGS, emphasizing the challenges in understanding genotype-phenotype relationships due to its rarity and the lack of suitable research models. The review projects a clinical overview of the...

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PMID: 40042123
DOI: 10.1002/cbin.70009

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