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Here, we report a BOS patient presenting with lethal persistent pulmonary hypertension of the newborn (PPHN) and inspiratory respiratory failure. The female infant was treated with nitric oxide and vasodilator, which did not improve her condition. The inspiratory respiratory failure required management with deep sedation. She died on postnatal day 60 due to progressed heart failure. Whole exome sequencing revealed de novo mutation in the <jats:italic>ASXL1<\/jats:italic> gene, c.1934dupG, p.Gly646TrpfsTer12.<\/jats:p>","DOI":"10.1002\/ajmg.a.38681","type":"journal-article","created":{"date-parts":[[2018,4,22]],"date-time":"2018-04-22T04:10:11Z","timestamp":1524370211000},"page":"1245-1248","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Lethal persistent pulmonary hypertension of the newborn in Bohring\u2013Opitz syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5588-083X","authenticated-orcid":false,"given":"Masaya","family":"Kibe","sequence":"first","affiliation":[{"name":"Department of Neonatal Medicine Kagoshima City Hospital Kagoshima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Ibara","sequence":"additional","affiliation":[{"name":"Department of Neonatal Medicine Kagoshima City Hospital Kagoshima 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