{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:50:07Z","timestamp":1787017807741,"version":"build-2736575974"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T00:00:00Z","timestamp":1490745600000},"content-version":"vor","delay-in-days":87,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:p>\n                    Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of\n                    <jats:italic>JAG1<\/jats:italic>\n                    and\n                    <jats:italic>NOTCH2<\/jats:italic>\n                    genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.\n                  <\/jats:p>","DOI":"10.1155\/2017\/1368189","type":"journal-article","created":{"date-parts":[[2017,3,29]],"date-time":"2017-03-29T17:01:05Z","timestamp":1490806865000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Novel Heterozygous Mutations in\n                    <i>JAG1<\/i>\n                    and\n                    <i>NOTCH2<\/i>\n                    Genes in a Neonatal Patient with Alagille Syndrome"],"prefix":"10.1155","volume":"2017","author":[{"given":"Alisa","family":"Brennan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6010-9716","authenticated-orcid":false,"given":"Anil","family":"Kesavan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,29]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.181"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-199912000-00015"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510290331"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2007.03.029"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100544"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(2001)17:1<18::aid-humu3>3.0.co;2-t"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(87)80153-1"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.0000037221.45902.69"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e3181d98ea8"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1747-0803.2010.00386.x"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2017\/1368189.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2017\/1368189.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2017\/1368189","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T23:52:34Z","timestamp":1762473154000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2017\/1368189"}},"subtitle":[],"editor":[{"given":"Ozgur","family":"Cogulu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1155\/2017\/1368189"],"URL":"https:\/\/doi.org\/10.1155\/2017\/1368189","archive":["Portico"],"relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"value":"2090-6803","type":"print"},{"value":"2090-6811","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"2016-12-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-03-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-03-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"1368189"}}