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We herein report the case of a Japanese female patient presenting with multiple arteriopathy including moyamoya disease, a tortuosity of abdominal arteries and pulmonary hypertension due to peripheral pulmonary artery stenosis. This case suggests the possible progression of cerebral arteriopathy including moyamoya disease in patients with elastin mutations. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37662","type":"journal-article","created":{"date-parts":[[2016,4,15]],"date-time":"2016-04-15T05:23:27Z","timestamp":1460697807000},"page":"1924-1927","source":"Crossref","is-referenced-by-count":4,"title":["Moyamoya disease and artery tortuosity as rare phenotypes in a patient with an elastin mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"Tsukasa","family":"Ishiwata","sequence":"first","affiliation":[{"name":"Department of Respirology Graduate School of Medicine Chiba University Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiro","family":"Tanabe","sequence":"additional","affiliation":[{"name":"Department of Respirology Graduate School of Medicine Chiba University Chiba 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