Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset
Stephanie Barbara Schatz, Christoph Jüngst, Verena Keitel‐Anselmo, Ralf Kubitz, Christina Becker, Patrick Gerner, Eva‐Doreen Pfister, Imeke Goldschmidt, Norman Junge, Daniel Wenning, Stephan Gehring, Stefan Arens, Dirk Bretschneider, Dirk Grothues, Guido Engelmann, Frank Lammert, Ulrich Baumann – 22 March 2018 – Genetic variants in the adenosine triphosphate‐binding cassette subfamily B member 4 (ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid‐as