HEREDITARY CHOLESTASIS COMBINED WITH PERIPHERAL PULMONARY STENOSIS AND OTHER ANOMALIES
- 21 January 1977
- journal article
- research article
- Published by Wiley in Acta Paediatrica
- Vol. 66 (1), 7-15
- https://doi.org/10.1111/j.1651-2227.1977.tb07801.x
Abstract
A syndrome consisting of chronic intrahepatic cholestasis with retention of bile acids but with normalization of bile pigment excretion and 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.Keywords
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