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. 1977 Jan;66(1):7-15.
doi: 10.1111/j.1651-2227.1977.tb07801.x.

Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies

N T Henriksen, F Langmark, S J Sorland, O Fausa, S Landaas, O Aagenaes

Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies

N T Henriksen et al. 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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