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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.[Abstract] [Full Text] [Related] [New Search]