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. 2018 Oct 1;26(Suppl 1):113–819. doi: 10.1038/s41431-018-0247-7
Patient Age TJP2 [NM_004817.3] ABCC2 [NM_000392.3] ABCB11 [NM_003742.2] Phenotype
Proband 21 years

c.[3334C>T](;)

[3334C>T]

c.[3563T>A](;)

[4544G>A]

c.[1331T>C](;)

[1331T>C]

Icterus as newborn. Liver disease since childhood. Liver biopsy shows cirrhosis, non-specific, maybe caused by cholestasis. Candidate for liver transplantation.

Brother

24 years

c.[3334C>T](;)

[3334C>T]

c.[3563T>A](;)

[4544G>A]

c.[1331T>C](;)

[1331T>C]

Icterus as newborn, normal liver biopsy. Marginally increased liver parameters.

Sister

19 years

c.[3334C>T](;)

[3334C>T]

c.[3563T>A](;)

[4544G>A]

c.[1331T>C];[=] Icterus as newborn. Intrahepatic cholestasis of pregnancy (ICP). Liver biopsy not performed yet.