{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:27:16Z","timestamp":1791296836710,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,12,21]],"date-time":"2015-12-21T00:00:00Z","timestamp":1450656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004196","name":"Odense Universitetshospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,7]]},"abstract":"Patients with germline mutations in SMAD4<\/jats:styled-content><\/jats:italic> can present symptoms of both juvenile polyposis syndrome (JPS<\/jats:styled-content>) and hereditary hemorrhagic telangiectasia (HHT<\/jats:styled-content>): the JP\u2010HHT<\/jats:styled-content> syndrome. The complete phenotypic picture of this syndrome is only just emerging. We describe the clinical characteristics of 14 patients with SMAD4<\/jats:styled-content><\/jats:italic>\u2010mutations. The study was a retrospective, register\u2010based study. SMAD4<\/jats:styled-content><\/jats:italic> mutations carriers were identified through the Danish HHT<\/jats:styled-content>\u2010registry, the genetic laboratories \u2013 and the genetic departments in Denmark. The medical files from relevant departments were reviewed and symptoms of HHT<\/jats:styled-content>, JPS<\/jats:styled-content>, aortopathy and family history were noted. We detected 14 patients with SMAD4<\/jats:styled-content><\/jats:italic> mutations. All patients had polyps removed and 11 of 14 fulfilled the diagnostic criteria for JPS<\/jats:styled-content>. Eight patients were screened for HHT<\/jats:styled-content>\u2010symptoms and seven of these fulfilled the Cura\u00e7ao criteria. One patient had aortic root dilation. Our findings support that SMAD4<\/jats:styled-content><\/jats:italic> mutations carriers have symptoms of both HHT<\/jats:styled-content> and JPS<\/jats:styled-content> and that the frequency of PAVM<\/jats:styled-content> and gastric involvement with polyps is higher than in patients with HHT<\/jats:styled-content> or JPS<\/jats:styled-content> not caused by a SMAD4<\/jats:styled-content><\/jats:italic> mutation. Out of eight patients screened for aortopathy, one had aortic root dilatation, highlighting the need for additional screening for aortopathy.<\/jats:p>","DOI":"10.1111\/cge.12693","type":"journal-article","created":{"date-parts":[[2015,11,17]],"date-time":"2015-11-17T06:56:48Z","timestamp":1447743408000},"page":"55-62","source":"Crossref","is-referenced-by-count":35,"title":["JP\u2013HHT<\/scp> phenotype in Danish patients with SMAD4<\/scp><\/i> mutations"],"prefix":"10.1111","volume":"90","author":[{"given":"A. 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