Associated Papers
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I et al.
Scientific Reports, 2021
33452396 (PubMed )
Supplement: 41598_2021_81093_MOESM1_ESM.docx
Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA et al.
Human Mutation, 2019
Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.
Stanwyck LK et al.
American Journal of Ophthalmology Case Reports, 2019
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
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