{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T04:52:13Z","timestamp":1791089533435,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,10,5]],"date-time":"2021-10-05T00:00:00Z","timestamp":1633392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant fibrovascular dysplasia caused by mutations in\n                    <jats:italic>ENG<\/jats:italic>\n                    ,\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    , and\n                    <jats:italic>SMAD4<\/jats:italic>\n                    . Increasingly, there has been an appreciation for vascular conditions with phenotypic overlap to HHT but which have distinct clinical manifestations and arise from novel or uncharacterized gene variants. This study reported on a cohort of four unrelated probands who were diagnosed with a rare form of\n                    <jats:italic>GDF2<\/jats:italic>\n                    \u2010related HHT5, for which only five prior cases have been described. Two patients harbored heterozygous missense variants not previously annotated as pathogenic (p.Val403Ile; p.Glu355Gln). Clinically, these patients had features resembling HHT1, including cerebrovascular involvement of their disease (first report documenting cerebral involvement of HHT5), but with earlier onset of epistaxis and a unique anatomic distribution of dermal capillary lesions that involved the upper forelimbs, trunk, and head. The other two patients harbored interstitial deletions larger than five megabases between 10q11.22 and 10q11.23 that included\n                    <jats:italic>GDF2<\/jats:italic>\n                    . To our knowledge, this is the first report detailing large genomic deletions leading to HHT5. These patients also demonstrated mucocutaneous capillary dysplasias, including intranasal vascular lesions complicated by childhood\u2010onset epistasis, with a number of extravascular findings related to their 10q11.21q11.23 deletion. In conclusion, patients with\n                    <jats:italic>GDF2<\/jats:italic>\n                    \u2010related HHT may present with a number of unique characteristics that differ from classically reported features of HHT.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62522","type":"journal-article","created":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T09:15:07Z","timestamp":1633684507000},"page":"199-209","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Clinical manifestations of patients with\n                    <scp>\n                      <i>GDF2<\/i>\n                    <\/scp>\n                    mutations associated with hereditary hemorrhagic telangiectasia type 5"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9263-6553","authenticated-orcid":false,"given":"Ahmed","family":"Farhan","sequence":"first","affiliation":[{"name":"Division of Interventional Radiology, Russell H. 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