{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:57Z","timestamp":1789764837087,"version":"4.0.1"},"reference-count":19,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2018,2,26]],"date-time":"2018-02-26T00:00:00Z","timestamp":1519603200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:p>Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes, clefting of the nasal tip, and various skeletal anomalies. Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. Although familial CFNS cases have been reported, no studies in the literature describe familial cases of CFNS expressing bilateral cleft lip and palate. Here, we describe a Japanese family with three cases of CFNS expressing bilateral cleft lip and palate.<\/jats:p>","DOI":"10.1597\/15-347","type":"journal-article","created":{"date-parts":[[2017,1,31]],"date-time":"2017-01-31T15:21:15Z","timestamp":1485876075000},"page":"1026-1029","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["A Family with Craniofrontonasal Syndrome"],"prefix":"10.1177","volume":"55","author":[{"given":"Yoshikazu","family":"Inoue","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiaki","family":"Sakamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori","family":"Sugimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hidehito","family":"Inagaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Boda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Miyata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideteru","family":"Kato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroki","family":"Kurahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Okumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,2,26]]},"reference":[{"key":"bibr1-15-347","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1977.47.6.0886"},{"key":"bibr2-15-347","first-page":"361","volume":"6","author":"Devriendt K.","year":"1995","journal-title":"Genet Counsel"},{"key":"bibr3-15-347","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1937"},{"key":"bibr4-15-347","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(88)90358-1"},{"key":"bibr5-15-347","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00555.x"},{"key":"bibr6-15-347","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420150312"},{"key":"bibr7-15-347","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10176"},{"key":"bibr8-15-347","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270315"},{"key":"bibr9-15-347","first-page":"3","volume":"13","author":"Pruzansky S.","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"bibr10-15-347","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550613.x"},{"key":"bibr11-15-347","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U"},{"key":"bibr12-15-347","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00552.x"},{"key":"bibr13-15-347","doi-asserted-by":"publisher","DOI":"10.1597\/05-014.1"},{"key":"bibr14-15-347","first-page":"A65","volume":"45","author":"Smith A.C.M.","year":"1989","journal-title":"Am J Hum Genet"},{"key":"bibr15-15-347","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402819101"},{"key":"bibr16-15-347","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.07.017"},{"key":"bibr17-15-347","doi-asserted-by":"publisher","DOI":"10.1159\/000071605"},{"key":"bibr18-15-347","doi-asserted-by":"publisher","DOI":"10.1086\/421532"},{"key":"bibr19-15-347","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20193"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/15-347","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1597\/15-347","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/15-347","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:19:07Z","timestamp":1777393147000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/15-347"}},"subtitle":["The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate"],"short-title":[],"issued":{"date-parts":[[2018,2,26]]},"references-count":19,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["10.1597\/15-347"],"URL":"https:\/\/doi.org\/10.1597\/15-347","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2,26]]}}}