{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T08:12:13Z","timestamp":1778659933969,"version":"3.51.4"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T00:00:00Z","timestamp":1775088000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:00:00Z","timestamp":1778630400000},"content-version":"vor","delay-in-days":41,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100004731","name":"Natural Science Foundation of Zhejiang Province","doi-asserted-by":"publisher","award":["TGY24H190011"],"award-info":[{"award-number":["TGY24H190011"]}],"id":[{"id":"10.13039\/501100004731","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012175","name":"Zhejiang Traditional Chinese Medicine Administration","doi-asserted-by":"publisher","award":["2024ZL1140"],"award-info":[{"award-number":["2024ZL1140"]}],"id":[{"id":"10.13039\/501100012175","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017531","name":"Medical and Health Research Project of Zhejiang Province","doi-asserted-by":"publisher","award":["2022KY411"],"award-info":[{"award-number":["2022KY411"]}],"id":[{"id":"10.13039\/501100017531","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100017577","name":"Basic Public Welfare Research Program of Zhejiang Province","doi-asserted-by":"publisher","award":["LGF22H190009"],"award-info":[{"award-number":["LGF22H190009"]}],"id":[{"id":"10.13039\/501100017577","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"DOI":"10.1186\/s13256-026-05985-1","type":"journal-article","created":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T11:17:04Z","timestamp":1775128624000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Alagille syndrome caused by p.L2014Vfs*10 in NOTCH2: a case report and review of the literature"],"prefix":"10.1186","volume":"20","author":[{"given":"Weifeng","family":"Xuan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jintang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2476-7903","authenticated-orcid":false,"given":"Bo","family":"Qin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,4,2]]},"reference":[{"issue":"4","key":"5985_CR1","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1016\/j.cld.2018.06.001","volume":"22","author":"E Mitchell","year":"2018","unstructured":"Mitchell E, Gilbert M, Loomes KM. Alagille syndrome. Clin Liver Dis. 2018;22(4):625\u201341.","journal-title":"Clin Liver Dis"},{"issue":"14","key":"5985_CR2","doi-asserted-by":"publisher","first-page":"11758","DOI":"10.3390\/ijms241411758","volume":"24","author":"N Semenova","year":"2023","unstructured":"Semenova N, Kamenets E, Annenkova E, Marakhonov A, Gusarova E, Demina N, et al. Clinical characterization of Alagille syndrome in patients with cholestatic liver disease. Int J Mol Sci. 2023;24(14):11758.","journal-title":"Int J Mol Sci"},{"key":"5985_CR3","doi-asserted-by":"publisher","DOI":"10.4103\/abr.abr_201_22","volume":"12","author":"HM Isa","year":"2023","unstructured":"Isa HM, Alahmed FA. Clinical, laboratory, radiological, and genetic characteristics of pediatric patients with Alagille syndrome. Adv Biomed Res. 2023;12: 155.","journal-title":"Adv Biomed Res"},{"issue":"2","key":"5985_CR4","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1016\/j.cell.2009.03.045","volume":"137","author":"R Kopan","year":"2009","unstructured":"Kopan R, Ilagan MX. The canonical Notch signaling pathway: unfolding the activation mechanism. Cell. 2009;137(2):216\u201333.","journal-title":"Cell"},{"issue":"12","key":"5985_CR5","doi-asserted-by":"publisher","first-page":"2197","DOI":"10.1002\/humu.23879","volume":"40","author":"MA Gilbert","year":"2019","unstructured":"Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, et al. Alagille Syndrome mutation update: comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 2019;40(12):2197\u2013220.","journal-title":"Hum Mutat"},{"issue":"8","key":"5985_CR6","doi-asserted-by":"publisher","first-page":"1812","DOI":"10.1111\/liv.14553","volume":"40","author":"BM Kamath","year":"2020","unstructured":"Kamath BM, Stein P, Houwen RHJ, Verkade HJ. Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis. Liver Int. 2020;40(8):1812\u201322.","journal-title":"Liver Int"},{"key":"5985_CR7","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2023.103231","volume":"73","author":"O Hatim","year":"2023","unstructured":"Hatim O, Pavlinov I, Xu M, Linask K, Beers J, Liu C, et al. Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene. Stem Cell Res. 2023;73: 103231.","journal-title":"Stem Cell Res"},{"issue":"2","key":"5985_CR8","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1002\/hep.32761","volume":"77","author":"SM Vandriel","year":"2023","unstructured":"Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, et al. Natural history of liver disease in a large international cohort of children with Alagille syndrome: results from the GALA study. Hepatology. 2023;77(2):512\u201329.","journal-title":"Hepatology"},{"issue":"2","key":"5985_CR9","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1136\/jmedgenet-2011-100544","volume":"49","author":"BM Kamath","year":"2012","unstructured":"Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, et al. NOTCH2 mutations in Alagille syndrome. J Med Genet. 2012;49(2):138\u201344.","journal-title":"J Med Genet"},{"issue":"19","key":"5985_CR10","doi-asserted-by":"publisher","first-page":"11374","DOI":"10.3390\/ijms231911374","volume":"23","author":"N Aida","year":"2022","unstructured":"Aida N, Ohno T, Azuma T. Progress and current status in Hajdu\u2013Cheney syndrome with focus on novel genetic research. Int J Mol Sci. 2022;23(19):11374.","journal-title":"Int J Mol Sci"},{"issue":"11","key":"5985_CR11","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1038\/s41569-018-0100-2","volume":"15","author":"D MacGrogan","year":"2018","unstructured":"MacGrogan D, Munch J, de la Pompa JL. Notch and interacting signalling pathways in cardiac development, disease, and regeneration. Nat Rev Cardiol. 2018;15(11):685\u2013704.","journal-title":"Nat Rev Cardiol"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-026-05985-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-05985-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-026-05985-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T07:43:11Z","timestamp":1778658191000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13256-026-05985-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,2]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["5985"],"URL":"https:\/\/doi.org\/10.1186\/s13256-026-05985-1","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,2]]},"assertion":[{"value":"6 June 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 January 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study involving human participants was reviewed and approved by the Institutional Ethics Committee of Shaoxing Maternity and Child Health Care Hospital (Shaoxing, China).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors have declared that no competing interests exist.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"262"}}