doi: 10.1111/j.1651-2227.1977.tb07801.x.
Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies
- PMID: 831382
- DOI: 10.1111/j.1651-2227.1977.tb07801.x
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Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies
Acta Paediatr Scand.
1977 Jan.
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.
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