{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:03:40Z","timestamp":1790935420406,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,7,8]],"date-time":"2002-07-08T00:00:00Z","timestamp":1026086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Alagille syndrome is a multisystem developmental disorder with primary involvement of the liver, heart, skeleton, eyes and facial structures, and demonstrates highly variable expressivity with respect to all of the involved systems. Alagille syndrome is caused by mutations in the\n                    <jats:italic>Jagged1<\/jats:italic>\n                    gene.\n                    <jats:italic>Jagged1<\/jats:italic>\n                    is a ligand in the Notch signaling pathway that has been shown to regulate early cell fate determination. Mutations in\n                    <jats:italic>Jagged1<\/jats:italic>\n                    have been identified in approximately 80% of patients with Alagille syndrome. We have recently identified two patients with mutation proven Alagille syndrome who also had unilateral coronal craniosynostosis. Both individuals were screened for mutations in fibroblast growth factor receptor 1, 2, 3 and\n                    <jats:italic>TWIST<\/jats:italic>\n                    genes, all associated with various types of craniosynostosis and no mutations were identified. The finding of a conserved form of craniosynostosis in two unrelated patients with Alagille syndrome and mutations in\n                    <jats:italic>Jagged1<\/jats:italic>\n                    may indicate that\n                    <jats:italic>Jagged1<\/jats:italic>\n                    plays a role in cranial suture formation. \u00a9 2002 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.10608","type":"journal-article","created":{"date-parts":[[2002,10,8]],"date-time":"2002-10-08T23:13:20Z","timestamp":1034118800000},"page":"176-180","source":"Crossref","is-referenced-by-count":39,"title":["Craniosynostosis in Alagille syndrome"],"prefix":"10.1002","volume":"112","author":[{"given":"Binita M.","family":"Kamath","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Stolle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynn","family":"Bason","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond P.","family":"Colliton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Piccoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy B.","family":"Spinner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian 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