{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T23:30:39Z","timestamp":1790206239502,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,3,5]],"date-time":"2004-03-05T00:00:00Z","timestamp":1078444800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in <jats:italic>TCOF1<\/jats:italic>. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter\u2010 and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre\u2010 and postnatal disease diagnoses in 13 TCS families. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30010","type":"journal-article","created":{"date-parts":[[2004,3,25]],"date-time":"2004-03-25T17:58:41Z","timestamp":1080237521000},"page":"244-248","source":"Crossref","is-referenced-by-count":37,"title":["Identification of mutations in <i>TCOF1<\/i>: Use of molecular analysis in the pre\u2010 and postnatal diagnosis of Treacher Collins syndrome"],"prefix":"10.1002","volume":"127A","author":[{"given":"Jill","family":"Dixon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Ellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armand","family":"Bottani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Temple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael James","family":"Dixon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,3,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250209"},{"key":"e_1_2_6_3_1","first-page":"96","article-title":"Treacher Collins syndrome: Correlation between clinical and genetic linkage studies","volume":"3","author":"Dixon MJ","year":"1994","journal-title":"Clin Dysmorph"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.10.1473"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.7.603"},{"key":"e_1_2_6_6_1","first-page":"515","article-title":"The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature termination codon","volume":"60","author":"Edwards SJ","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/ortho\/29.4.293"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1967.02090190051001"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1533"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80709-8"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320107"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1995.01890050009002"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.1870190213"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1093\/milmed\/159.3.250","article-title":"Recurrence of Treacher Collins syndrome with sonographic findings","volume":"159","author":"Milligan DA","year":"1994","journal-title":"Mil Med"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040307"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2273.1981.tb01782.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.16.1673"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80522-9"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.493"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0296-130"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.3110"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30010","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T23:07:28Z","timestamp":1700262448000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3,5]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,6,15]]}},"alternative-id":["10.1002\/ajmg.a.30010"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30010","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,3,5]]}}}