{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T14:50:36Z","timestamp":1774709436066,"version":"3.50.1"},"reference-count":15,"publisher":"XMLink","issue":"2","license":[{"start":{"date-parts":[[2007,1,1]],"date-time":"2007-01-01T00:00:00Z","timestamp":1167609600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0"}],"content-domain":{"domain":["synapse.koreamed.org"],"crossmark-restriction":false},"short-container-title":["J Korean Med Sci"],"published-print":{"date-parts":[[2007]]},"DOI":"10.3346\/jkms.2007.22.2.352","type":"journal-article","created":{"date-parts":[[2009,5,22]],"date-time":"2009-05-22T07:59:23Z","timestamp":1242979163000},"page":"352","update-policy":"https:\/\/doi.org\/10.3346\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene"],"prefix":"10.3346","volume":"22","author":[{"given":"So-Hee","family":"Eun","sequence":"first","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ki Ssu","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo-Kyung","family":"Je","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology, College of Medicine, Korea University, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eung Seok","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine, Korea University, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byung Min","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung Hwa","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baik-Lin","family":"Eun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kee Hwan","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"18617","reference":[{"key":"10.3346\/jkms.2007.22.2.352_ref1","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1002\/ajmg.1320560327","volume":"56","author":"Cohen","year":"1995","journal-title":"Am J Med Genet"},{"key":"10.3346\/jkms.2007.22.2.352_ref2","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1016\/S0030-6665(05)70280-2","volume":"33","author":"Katzen","year":"2000","journal-title":"Otolaryngol Clin North Am"},{"key":"10.3346\/jkms.2007.22.2.352_ref3","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1111\/j.1365-2133.1969.tb13975.x","volume":"81","author":"Beare","year":"1969","journal-title":"Br J Dermatol"},{"key":"10.3346\/jkms.2007.22.2.352_ref4","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1016\/S0022-3476(78)80371-0","volume":"92","author":"Stevenson","year":"1978","journal-title":"J Pediatr"},{"key":"10.3346\/jkms.2007.22.2.352_ref5","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1002\/ajmg.1320440120","volume":"44","author":"Hall","year":"1992","journal-title":"Am J Med Genet"},{"key":"10.3346\/jkms.2007.22.2.352_ref6","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1038\/ng0896-492","volume":"13","author":"Przylepa","year":"1996","journal-title":"Nat Genet"},{"key":"10.3346\/jkms.2007.22.2.352_ref7","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<362::AID-AJMG15>3.0.CO;2-M","volume":"76","author":"Krepelova","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.3346\/jkms.2007.22.2.352_ref8","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1159\/000065112","volume":"37","author":"Akai","year":"2002","journal-title":"Pediatr Neurosurg"},{"key":"10.3346\/jkms.2007.22.2.352_ref9","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1034\/j.1399-0004.2002.610309.x","volume":"61","author":"Wang","year":"2002","journal-title":"Clin Genet"},{"key":"10.3346\/jkms.2007.22.2.352_ref10","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/ajmg.a.20101","volume":"121","author":"Vargas","year":"2003","journal-title":"Am J Med Genet A"},{"key":"10.3346\/jkms.2007.22.2.352_ref11","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0378-1119(99)00047-5","volume":"230","author":"Zhang","year":"1999","journal-title":"Gene"},{"key":"10.3346\/jkms.2007.22.2.352_ref12","doi-asserted-by":"crossref","first-page":"2143","DOI":"10.1242\/dev.128.11.2143","volume":"128","author":"Sarkar","year":"2001","journal-title":"Development"},{"key":"10.3346\/jkms.2007.22.2.352_ref13","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/ejo\/25.2.139","volume":"25","author":"Rice","year":"2003","journal-title":"Eur J Orthod"},{"key":"10.3346\/jkms.2007.22.2.352_ref14","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/0387-7604(96)00020-4","volume":"18","author":"Ito","year":"1996","journal-title":"Brain Dev"},{"key":"10.3346\/jkms.2007.22.2.352_ref15","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1007\/s00701-002-0933-6","volume":"144","author":"Wang","year":"2002","journal-title":"Acta Neurochir (Wien)"}],"container-title":["Journal of Korean Medical Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3346\/jkms.2007.22.2.352","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/synapse.koreamed.org\/pdf\/10.3346\/jkms.2007.22.2.352","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2007.22.2.352","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,6]],"date-time":"2021-10-06T02:35:24Z","timestamp":1633487724000},"score":1,"resource":{"primary":{"URL":"https:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2007.22.2.352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007]]}},"URL":"https:\/\/doi.org\/10.3346\/jkms.2007.22.2.352","relation":{},"ISSN":["1011-8934"],"issn-type":[{"value":"1011-8934","type":"print"}],"subject":[],"published":{"date-parts":[[2007]]},"assertion":[{"value":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3346\/jkms.2007.22.2.352","URL":"https:\/\/synapse.koreamed.org\/DOIx.php?id=10.3346\/jkms.2007.22.2.352","name":"synapse","label":"Synapse","group":{"name":"multiple_resolution","label":"Full text available at:"}},{"value":"http:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2007.22.2.352","URL":"http:\/\/jkms.org\/DOIx.php?id=10.3346\/jkms.2007.22.2.352","name":"the_journal","label":"the Journal","group":{"name":"multiple_resolution","label":"Full text available at:"}},{"value":"2005-11-25","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2006-01-05","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2007-04-30","name":"published_online","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"Copyright \u00a9 2007 The Korean Academy of Medical Sciences","name":"copyright","label":"Copyright","group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:\/\/creativecommons.org\/licenses\/by-nc\/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.","name":"license","label":"License","explanation":{"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0"},"group":{"name":"Copyright_and_licensing","label":"Copyright and Licensing"}}]}}