{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T15:15:37Z","timestamp":1777043737733,"version":"3.51.4"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.1097\/mcd.0000000000000067","type":"journal-article","created":{"date-parts":[[2014,12,8]],"date-time":"2014-12-08T09:41:13Z","timestamp":1418031673000},"page":"79-83","source":"Crossref","is-referenced-by-count":5,"title":["Report of a family with craniofrontonasal syndrome"],"prefix":"10.1097","volume":"24","author":[{"given":"Berk","family":"\u00d6zy\u0131lmaz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alper","family":"Gezdirici","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"\u00d6zen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6nder","family":"Kalenderer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-7-20211004","doi-asserted-by":"crossref","first-page":"2068","DOI":"10.1101\/gad.1963210","article-title":"Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries.","volume":"24","author":"Bush","year":"2010","journal-title":"Genes Dev"},{"key":"R2-7-20211004","first-page":"85","article-title":"Craniofrontonasal dysplasia.","volume":"15","author":"Cohen","year":"1979","journal-title":"Birth Defects Orig Artic Ser"},{"key":"R3-7-20211004","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1093\/hmg\/6.11.1937","article-title":"A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.","volume":"6","author":"Feldman","year":"1997","journal-title":"Hum Mol Genet"},{"key":"R4-7-20211004","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1080\/09286580500507220","article-title":"Normal periocular anthropometric measurements in the Turkish population.","volume":"13","author":"Ozturk","year":"2006","journal-title":"Ophthalmic Epidemiol"},{"key":"R5-7-20211004","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1034\/j.1399-0004.1999.550613.x","article-title":"Further evidence from two families that craniofrontonasal dysplasia maps to Xp22.","volume":"55","author":"Pulleyn","year":"1999","journal-title":"Clin Genet"},{"key":"R7-7-20211004","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.gene.2013.06.038","article-title":"A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication.","volume":"527","author":"Seven","year":"2013","journal-title":"Gene"},{"key":"R8-7-20211004","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1597\/05-014.1","article-title":"A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome.","volume":"43","author":"Shotelersuk","year":"2006","journal-title":"Cleft Palate Craniofac J"},{"key":"R9-7-20211004","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/j.1741-4520.2006.00140.x","article-title":"EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.","volume":"47","author":"Torii","year":"2007","journal-title":"Congenit Anom (Kyoto)"},{"key":"R10-7-20211004","doi-asserted-by":"crossref","first-page":"8652","DOI":"10.1073\/pnas.0402819101","article-title":"Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.","volume":"101","author":"Twigg","year":"2004","journal-title":"Proc Natl Acad Sci USA"},{"key":"R11-7-20211004","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1086\/504440","article-title":"The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.","volume":"78","author":"Twigg","year":"2006","journal-title":"Am J Hum Genet"},{"key":"R12-7-20211004","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1093\/hmg\/ddt015","article-title":"Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.","volume":"22","author":"Twigg","year":"2013","journal-title":"Hum Mol Genet"},{"key":"R13-7-20211004","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1038\/sj.ejhg.5201633","article-title":"Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.","volume":"14","author":"Vasudevan","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"R14-7-20211004","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1086\/421532","article-title":"Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.","volume":"74","author":"Wieland","year":"2004","journal-title":"Am J Hum Genet"},{"key":"R15-7-20211004","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1002\/humu.20193","article-title":"Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).","volume":"26","author":"Wieland","year":"2005","journal-title":"Hum Mutat"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00019605-201504000-00007","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,6]],"date-time":"2021-10-06T14:11:21Z","timestamp":1633529481000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00019605-201504000-00007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000067","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2015,4]]}}}