| Literature DB >> 831382 |
N T Henriksen, F Langmark, S J Sorland, O Fausa, S Landaas, O Aagenaes.
Abstract
A syndrome consisting of chronic intrahepatic cholestasis with retention of bile acids but with normalization of bile pigment excretion ahd blood lipids, peripheral pulmonary stenosis, vertebral anomalies and a characteristic facies is described in six patients, including a father and his daughter. An autosomal dominant mode of inheritance is suggested.Entities:
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Year: 1977 PMID: 831382 DOI: 10.1111/j.1651-2227.1977.tb07801.x
Source DB: PubMed Journal: Acta Paediatr Scand ISSN: 0001-656X