Article
Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation.
Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology - 1 Jul 2017
Amalnath S Deepak, Sargolzaeiaval Forough, Oshima Junko, Baskar Dipti
Abstract excerpt
Werner syndrome is a rare progeroid syndrome caused by the WRN gene mutation. It is characterized by a general appearance of premature aging, diabetes mellitus, and atherosclerosis, and an increased risk of malignancies. We report a patient who presented with hematemesis due to cirrhosis of liver and was subsequently diagnosed with Werner syndrome. Further genetic analysis showed a novel mutation in the WRN gene...
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