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Alagille syndrome is a rare autosomal dominant disorder that affects multiple organs and systems including liver, heart,
bones, vascular system, and kidneys and also causes facial abnormalities. Majority of the cases involve mutation in one copy
of the JAG1 gene while rarely some patients may have mutations in NOTCH2 gene. There is substantial va...
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Purpose of Review
Cholestasis is characterized by a conjugated hyperbilirubinemia secondary to impaired bile synthesis, transport, or excretion from the liver. It is always pathologic and can be indicative of an underlying hepatobiliary, genetic, or metabolic disorder, several of which require timely diagnosis to ensure proper management and optima...
Alagille-2 syndrome (AGLS-2) is a rare autosomal dominant illness that affects the Notch signalling pathway, with few studies reported in the literature related to dental science. It is recognized clinically, with anomalies of the liver, skeleton, kidneys, eyes, and face manifesting. The JAG1 gene accounts for about 97 percent of instances of Alagi...
