{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T12:56:17Z","timestamp":1761742577812},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3949,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Treacher Collins\u2010Franceschetti syndrome (TCOF) or mandibulofacial dysostosis (MFD) is an autosomal dominant disorder characterized by craniofacial abnormalities and hearing loss. A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q. Positive lod score values were obtained for all markers with a maximum at the D5S413 locus (Zmax = 3.79 at \u03b8 = 0%). Multipoint linkage analysis and haplotype analysis supported the location of the gene between loci D5S434 and D5S412. These results are consistent with previous linkage analysis [Dixon et al.: Am J Hum Genet 49:17\u201322, 1991, Am J Hum Genet 52:907\u2013914, 1993; Jabs et al.: Genomics 11:193\u2013198, 1991, Genomics 18:7\u201313, 1993] and provide further evidence of genetic homogeneity in this syndrome. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320520210","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:16:50Z","timestamp":1118510210000},"page":"174-177","source":"Crossref","is-referenced-by-count":20,"title":["Apparent genetic homogeneity of the treacher Collins\u2010Franceschetti syndrome"],"prefix":"10.1002","volume":"52","author":[{"given":"Patrick","family":"Edery","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Manach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Till","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Vignal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"907","article-title":"Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32\u201033.1","volume":"52","author":"Dixon MJ","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.4.249"},{"key":"e_1_2_1_4_1","first-page":"17","article-title":"The gene for Treacher Collins syndrome maps to the long arm of chromosome 5","volume":"49","author":"Dixon MJ","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","first-page":"60","article-title":"Un syndrome nouveau; 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