A New Variant of an Old Itch: Novel Missense Variant in ABCB4 Presenting with Intractable Pruritus

Journal of clinical and experimental hepatology, Vol. 12, Issue 2, Pages 701-704, 2021

PMID: 35535055

We report a novel homozygous missense variant in ABCB4 gene in a Yemeni child born to consanguineous parents, with a significant family history of liver disease-related deaths, resulting in a progressive familial intrahepatic cholestasis (PFIC) type 3 phenotype requiring liver transplantation for intractable pruritus.

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