Constantinides et al., perform a recall study from a British South Asian genetic cohort to explore the genetic and phenotypic risk of cholestatic liver disease. 55.6% of participants with rare heterozygous ABCB4/ABCB11 variants or a history of intrahepatic cholestasis of pregnancy showed evidence of liver involvement, highlighting the utility of genetic screening and monitoring.
- Maria Constantinides
- Joseph Gafton
- Julia Zöllner
