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  • Title: A New Variant of an Old Itch: Novel Missense Variant in ABCB4 Presenting with Intractable Pruritus.
    Author: Shankar S, Pande A, Geetha TS, Raichurkar K, Sakpal M, Lochan R, Asthana S.
    Journal: J Clin Exp Hepatol; 2022; 12(2):701-704. PubMed ID: 35535055.
    Abstract:
    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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