Rotor type hyperbilirubinemia is an autosomal recessive digenic disorder caused by mutations of the hepatic anion transporters SLCO1B1 and SLCO1B3.
1. |
van de Steeg E et al. (2012) Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. |
2. |
Wolkoff AW et al. (1976) Rotor's syndrome. A distinct inheritable pathophysiologic entity. |
3. |
Wolpert E et al. (1977) Abnormal sulfobromophthalein metabolism in Rotor's syndrome and obligate heterozygotes. |
4. |
Dollinger MR et al. (1967) Chronic familial hyperbilirubinemia. Hepatic defect(s) associated with occult hemolysis. |
5. |
SCHIFF L et al. (1959) Familial nonhemolytic jaundice with conjugated bilirubin in the serum; a case study. |
6. |
OMIM.ORG article Omim 237450 |