Cholestatic liver diseases of genetic etiology: Advances and controversies
Samar H. Ibrahim, Binita M. Kamath, Kathleen M. Loomes, Saul J. Karpen – 28 February 2022 – With the application of modern investigative technologies, cholestatic liver diseases of genetic etiology are increasingly identified as the root cause of previously designated “idiopathic” adult and pediatric liver diseases. Here, we review advances in the field enhanced by a deeper understanding of the phenotypes associated with specific gene defects that lead to cholestatic liver diseases.