ABCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome
Abstract
LPAC syndrome: Genotype-phenotype association of MR features We analyzed the relationship between MRI and the genetic status of ABCB4 in 125 individuals with LPAC. MRI and genetic status were available in all 125 cases This finding strongly supports the major role of ABCB4 gene in the pathogenesis of LPAC syndrome and highlights a genotype-phenotype association. Highlights We analysed the relationship between MRI and the genetic status of ABCB4 in LPAC. MR abnormalities were found in 61 (49%) of the 125 individuals with LPAC syndrome. Forty (67%) of the 60 individuals with an ABCB4 gene variant had MR abnormalities. Twenty-one (33%) of the 65 individuals without an ABCB4 gene variant had MR abnormalities.
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