Associated Papers
Alagille Syndrome: Unraveling the Complexities of Genotype-Phenotype Relationships and Exploring Avenues for Improved Diagnosis and Treatment.
Sharma P et al.
Cell Biology International, 2025
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA et al.
American Journal of Human Genetics, 2024
39043182 (PubMed )
Supplement: mmc3.xlsx › Pathogenic_Variant_Truth_Set
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.
Guegan K et al.
Clinical Genetics, 2012
Pediatric median neuropathy due to pruritus in Alagille syndrome.
Voermans NC et al.
Pediatric Neurology, 2006
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