Abstract
Cholestasis is an important manifestation of a variety of liver diseases. Intrahepatic cholestasis can result from genetic defects of liver epithelial cells. Molecular studies in humans have provided insight into rare cholestatic syndromes such as Alagille syndrome, progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis, and Aagenaes syndrome to name a few. Further characterization of these rare cholestatic disorders and the defective genes associated with them will aid in understanding hepatobiliary biology and other more common causes of intrahepatic cholestasis.
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Small, A.J., Lazaridis, K.N. (2008). Rare Causes of Cholestasis. In: Lindor, K.D., Talwalkar, J.A. (eds) Cholestatic Liver Disease. Clinical Gastroenterology. Humana Press. https://doi.org/10.1007/978-1-59745-118-5_6
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DOI: https://doi.org/10.1007/978-1-59745-118-5_6
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