Article
Neonatal-onset Progressive Familial Intrahepatic Cholestasis (PFIC): first molecular study in Tunisian patients.
La Tunisie medicale - 1 Feb 2021
Selmi Ines, Broly Franck, Ouarda Haifa, Marmech Emna, Khlayfia Zied, Kanzari Jihed, Azzabi Ons, Siala Nadia
Abstract excerpt
Progressive familial intrahepatic is a heterogeneous group of rare autosomal recessive liver disorders. Neonatal onset is characteristic of the PFIC 1 and PFIC 2, which result from mutations in genes respectivelyATP8B1 and ABCB11. Four Tunisian patients, three of them with PFIC 2 and one with PFIC1, were described. They all had typical clinical and biological features. However, they all had newly reported...
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