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Abdominal coarctation is an uncommon vascular congenital anomaly which has been described only three times in AGS. Recently, expression of the Jagged1 gene has been found in the developing heart and in multiple associated vascular structures, including the descending aorta. Mutation analysis of the Jagged1 gene in this fourth reported patient with coarctation of the abdominal aorta in AGS and right subclavian stenosis identified a mutation deletion (1485 Del CT). This agrees with the Jagged1 expression studies and suggests that coarctation of aorta may be a component of AGS. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10652","type":"journal-article","created":{"date-parts":[[2002,10,9]],"date-time":"2002-10-09T02:32:57Z","timestamp":1034130777000},"page":"75-78","source":"Crossref","is-referenced-by-count":31,"title":["Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome"],"prefix":"10.1002","volume":"112","author":[{"given":"Annick","family":"Raas\u2010Rothschild","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Shteyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Israela","family":"Lerer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amiram","family":"Nir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Granot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azaria J.J.T.","family":"Rein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,7,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80153-1"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0741-5214(88)90404-1"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200102)17:2<151::AID-HUMU8>3.0.CO;2-T"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(2001)17:1<72::AID-HUMU11>3.0.CO;2-U"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510290331"},{"key":"e_1_2_5_7_1","first-page":"519","article-title":"Abdominal aortic coarctation and segmental hypoplasia","volume":"86","author":"Graham LM","year":"1979","journal-title":"Surgery"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9"},{"key":"e_1_2_5_9_1","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1136\/jmg.37.9.658","article-title":"JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype","volume":"37","author":"Jones EA","year":"2000","journal-title":"J Med Genet"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.2.152"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/301875"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<56::AID-AJMG11>3.0.CO;2-W"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840020413"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-243"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2443"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5876(99)00223-2"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4820"},{"key":"e_1_2_5_19_1","unstructured":"OMIM\u2122 online Mendelian inheritance in man.2001.Baltimore MD: McKusick\u2010Nathans Institute for Genetic Medicine Johns Hopkins University.http:\/\/www.ncbi.nlm.nih.gov\/omim\/."},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.106.1.e9"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002469900160"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.51.32499"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10652","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10652","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T14:30:03Z","timestamp":1700317803000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10652"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,7,8]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,9,15]]}},"alternative-id":["10.1002\/ajmg.10652"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10652","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,7,8]]}}}