Intermittent jaundice Intrahepatic cholestasis Pancreatitis Abnormality of the digestive system Biliary cirrhosis Hepatomegaly Intermittent jaundice Intrahepatic cholestasis
[familydiagnosis.com]
Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R,
[ghr.nlm.nih.gov]
Strautnieks SS, Byrne JA, Pawlikowska L, et al. Severe bile export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008;134:1203-1214.
[rarediseases.org]