ABCB4 gene mutation—associated cholelithiasis in adults Olivier Rosmorduc, Brigitte Hermelin, Pierre—Yves Boelle, Rolland Parc, Jacques Taboury, Raoul Poupon  Gastroenterology  Volume 125, Issue 2, Pages 452-459 (August 2003) DOI: 10.1016/S0016-5085(03)00898-9

Figure 1 Ultrasound images of intrahepatic hyperechoic foci in patients with the LPAC syndrome. In these patients, a careful ultrasound examination detected intrahepatic hyperechoic foci with diffuse topography compatible with lipid deposits along the luminal surface of the intrahepatic biliary tree (arrows). These multiple dots, less than 1 mm in diameter, cast short echogenic trails without acoustic shadows and looked like comet tails (A and B). They were typically distributed along the portal arborizations (C) and may be associated with intrahepatic sludge or microlithiasis casting typical acoustic shadows (D). Gastroenterology 2003 125, 452-459DOI: (10.1016/S0016-5085(03)00898-9)

Figure 2 Study profile. Gastroenterology 2003 125, 452-459DOI: (10.1016/S0016-5085(03)00898-9)

Figure 3 Localization of the DCMs in the different domains of the ABCB4 protein. The gray boxes correspond to the transmembrane domains (TMD) of the protein. TMD1 and 2 correspond to the 2 symmetrical regions containing the transmembrane domains 1–6 and 7–12, respectively. NBD1 and 2 correspond to the nucleotide-binding domains, and the black stars correspond to the mutations that we identified in patients presenting with LPAC. Stars indicate the number of patients with the corresponding mutation. Gastroenterology 2003 125, 452-459DOI: (10.1016/S0016-5085(03)00898-9)

Figure 4 ABCB4 gene mutations in LPAC and other human liver diseases: genotype—phenotype relationship. Gastroenterology 2003 125, 452-459DOI: (10.1016/S0016-5085(03)00898-9)