_:vb50944176 . _:vb50944176 . _:vb50944176 . _:vb50944176 "url:https://www.ncbi.nlm.nih.gov/pubmed/9802883"^^ . _:vb50944176 "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12."^^ . _:vb50944176 . _:vb50944176 .