{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T16:33:28Z","timestamp":1790094808216,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,10,13]],"date-time":"2015-10-13T00:00:00Z","timestamp":1444694400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01\u2010DK081702"],"award-info":[{"award-number":["R01\u2010DK081702"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Alagille syndrome is a multisystem developmental disorder characterized by bile duct paucity, congenital heart disease, vertebral anomalies, posterior embryotoxon, and characteristic facial features. Alagille syndrome is typically the result of germline mutations in <jats:italic>JAG1<\/jats:italic> or <jats:italic>NOTCH2<\/jats:italic> and is one of several human diseases caused by Notch signaling abnormalities. A wide phenotypic spectrum has been well documented in Alagille syndrome. Therefore, monozygotic twins with Alagille syndrome provide a unique opportunity to evaluate potential phenotypic modifiers such as environmental factors or stochastic effects of gene expression. In this report, we describe an Alagille syndrome monozygotic twin pair with discordant placental and clinical findings. We propose that environmental factors such as prenatal hypoxia may have played a role in determining the phenotypic severity. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37429","type":"journal-article","created":{"date-parts":[[2015,10,14]],"date-time":"2015-10-14T03:37:16Z","timestamp":1444793836000},"page":"471-475","source":"Crossref","is-referenced-by-count":31,"title":["Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non\u2010genetic factors"],"prefix":"10.1002","volume":"170","author":[{"given":"Kosuke","family":"Izumi","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Nagano Children's Hospital Azumino Japan"},{"name":"Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences the University of Tokyo Tokyo 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