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We describe a patient harboring a novel <jats:italic>de novo BMP2<\/jats:italic> nonsense variant, who exhibited craniofacial and skeletal features previously described for this trait and the novel findings of bicuspid aortic valve (BAV) and aortic root and ascending aortic aneurysm. This first instance of aortic valve involvement provides another potential cause of BAV and confirms the role of BMP2 in left ventricular outflow development.<\/jats:p>","DOI":"10.1002\/ajmg.a.61992","type":"journal-article","created":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T06:40:57Z","timestamp":1606545657000},"page":"575-578","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A <i>de novo<\/i> pathogenic <scp><i>BMP2<\/i><\/scp> variant\u2010related phenotype with the novel finding of bicuspid aortic valve"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7383-3260","authenticated-orcid":false,"given":"Neha","family":"Ahluwalia","sequence":"first","affiliation":[{"name":"Department of Pediatrics Icahn School of Medicine at Mount Sinai  New York New York 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