Alagille syndrome with heterozygous JAG1 c.224 T > C variant: a case report and literature review

Abstract Background To study Alagille Syndrome (ALGS), a complex genetic disorder characterized by chronic cholestasis, congenital abnormalities, dyslipidemia, and distinctive facial features that manifest from infancy. Case presentation A 4-month-old girl with chronic cholestasis was referred to ou...

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Hlavní autoři:	Titis Widowati, Dian Kesumapramudya Nurputra, Zulvikar Syambani Ulhaq
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	SpringerOpen 2026-01-01
Edice:	Egyptian Liver Journal
Témata:	Alagille Syndrome (ALGS) JAG1 Cholestatis, dyslipidemia 3D modeling Variants
On-line přístup:	https://doi.org/10.1186/s43066-026-00495-7
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