Iyer, Nithya K SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. [electronic resource] - Thorax Aug 2010 - 745-6 p. digital Publication Type: Case Reports; Journal Article ISSN: 1468-3296 Standard No.: 10.1136/thx.2009.129932 doi Subjects--Topical Terms: Adenomatous Polyposis Coli--geneticsArteriovenous Malformations--diagnostic imagingHumansIntracranial Arteriovenous Malformations--diagnosisMaleMutationPulmonary Artery--abnormalitiesPulmonary Veins--abnormalitiesSmad4 Protein--geneticsTelangiectasia, Hereditary Hemorrhagic--diagnostic imagingTomography, X-Ray ComputedYoung Adult