Article
Severe thrombophilic diathesis starting with hepatic vein thrombosis (BUDD-CHIARI syndrome) in a family with a new Protein S gene mutation.
Acta gastro-enterologica Belgica - 1 Jan 2000
Gruselle P, Ooghe P, Cauchie P, Van der Cruyssen G
Abstract excerpt
We report the case of a 26-year-old man with a chronic Budd-Chiari syndrome with ascites, caused by a hereditary Protein S deficiency, in a Turkish family with consanguinity. In this family, the father, the two sisters and the young brother suffered from severe venous thrombosis of the limbs, with pulmonary embolism in two of them. Those thrombotic events are caused by a hitherto not reported mutation in the PROS...
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