1.
J Clin Exp Hepatol
; 12(2): 701-704, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35535055
RESUMO
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.