Cláudia P Gonçalves, Joana Vilaça, Diana Rita Oliveira and Filipa Neiva
Progressive familial intrahepatic cholestasis (PFIC) represents a heterogenous group of rare autosomal recessive liver disorders characterized by impaired bile secretion, leading to progressive cholestasis and potentially end-stage liver disease. PFIC type 4, caused by mutations in the TJP2 gene, is a particularly uncommon subtype.
Pages: 108-109 | 85 Views 42 Downloads