{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T11:51:10Z","timestamp":1785412270350,"version":"3.56.0"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,11,10]],"date-time":"2021-11-10T00:00:00Z","timestamp":1636502400000},"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":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adams\u2013Oliver syndrome (AOS), a rare inherited disorder, is characterized by scalp and terminal limb defects. Several genes associated with Notch pathway mutations have led to AOS. Here, we report a Thai male newborn presenting with aplasia cutis congenita and absence of a right pulmonary artery, which is suggestive of AOS. This was confirmed by the identification of a novel missense mutation in <jats:italic>DLL4<\/jats:italic>, a heterozygous one base pair change at nucleotide 82 (c.82G&gt;C, p.Gly28Arg), which is in N\u2010terminal domain. This is the first <jats:italic>DLL4<\/jats:italic>\u2010related AOS case with arterial defect.<\/jats:p>","DOI":"10.1002\/ajmg.a.62562","type":"journal-article","created":{"date-parts":[[2021,11,10]],"date-time":"2021-11-10T12:37:21Z","timestamp":1636547841000},"page":"658-664","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel <scp><i>DLL4<\/i><\/scp> mutation in <scp>Adams\u2013Oliver<\/scp> syndrome with absence of the right pulmonary artery in newborn"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9488-4470","authenticated-orcid":false,"given":"Kitiwan","family":"Rojnueangnit","sequence":"first","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, Faculty of Medicine Thammasat University  Pathumthani Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thanyalak","family":"Phawan","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, Faculty of Medicine Thammasat University  Pathumthani Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thanitchet","family":"Khetkham","sequence":"additional","affiliation":[{"name":"Division of Forensic Medicine Thammasat University Hospital  Khlong Nueng Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilaiporn","family":"Techasatid","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, Faculty of Medicine Thammasat University  Pathumthani Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boonchu","family":"Sirichongkolthong","sequence":"additional","affiliation":[{"name":"Division of Genetics, Department of Pediatrics, Faculty of Medicine Thammasat University  Pathumthani Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,11,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105415"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0147-9563(97)90087-x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806-4841.20153078"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36764"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0034-1387195"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0407290101"},{"key":"e_1_2_9_8_1","volume-title":"GeneReviews\u00ae","author":"Lehman A.","year":"1993"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1261093"},{"issue":"1","key":"e_1_2_9_10_1","first-page":"57","article-title":"The Adams\u2013Oliver syndrome in Spain: The epidemiological aspects","volume":"45","author":"Mart\u00ednez\u2010Fr\u00edas M. 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