Alagille Syndrome: A Narrative Review of Molecular Pathogenesis, Clinical Manifestations, Diagnosis and Management

Alagille Syndrome (ALGS) is a rare multisystem disorder of autosomal dominant type which is primarily caused due to mutations in the JAG1 gene and, less commonly, NOTCH2, both integral to Notch signalling. Clinically, ALGS is further characterised by cholestatic liver disease because of intrahepatic...

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Principais autores:	Deepanshu Sharma, Imran Ali Khan, Anup Zade, Bhagyesh Sapkale
格式:	Artigo
語言:	Inglês
出版:	JCDR Research and Publications Private Limited 2026-01-01
叢編:	Journal of Clinical and Diagnostic Research
主題:	bile duct paucity cholestasis jag1 mutation multisystem disorder notch signal
在線閱讀:	https://www.jcdr.net/articles/PDF/22320/82651_R2_Final_PD(OM)_PF1(PS)_F(NK)_PF1redo(PS_OM)_PFA_NC(IS)_PN(IS).pdf
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