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Novel JAG1 variants leading to Alagille syndrome in two Chinese cases

20 Jan 2024

Abstract excerpt

Alagille Syndrome (ALGS) is a complex genetic disorder characterized by cholestasis, congenital cardiac anomalies, and butterfly vertebrae. The variable phenotypic expression of ALGS can lead to challenges in accurately diagnosing affected infants, potentially resulting in misdiagnoses or underdiagnoses. This study highlights novel JAG1 gene mutations in two cases of ALGS. The first case with a novel...

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PMID: 38245625
DOI: 10.1038/s41598-024-52357-0

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