{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:34:59Z","timestamp":1760729699295},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4371,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with mild mandibulofacial dysostosis and a small interstitial deletion of 3p,46,XY,del(3)(p23p24.12). Linkage of Treacher Collins syndrome, the most common of the mandibulofacial dysostosis, to the 5q31.3\u2192q33.3 region of chromosome 5 has been established. This is the fourth report of a patient with mandibulofacial dysostosis with a chromosome abnormality outside the 5q31.3 area. Mandibulofacial dysostosis is a heterogeneous entity, and evaluation and counseling of affected individuals should be undertaken with caution. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460515","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:59:31Z","timestamp":1118509171000},"page":"534-536","source":"Crossref","is-referenced-by-count":20,"title":["Mild mandibulofacial dysostosis in a child with a deletion of 3p"],"prefix":"10.1002","volume":"46","author":[{"given":"Pamela Hawks","family":"Arn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carl","family":"Mankinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ethylin W.","family":"Jabs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279420"},{"key":"e_1_2_1_3_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_4_1","first-page":"274","article-title":"Association of Treacher Collins syndrome and translocation 6p21.31\/16p13.11: exclusion of the locus from these candidate regions","volume":"48","author":"Dixon MJ","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(87)90158-9"},{"key":"e_1_2_1_6_1","first-page":"649","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90117-W"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90118-X"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.14.5876"},{"key":"e_1_2_1_10_1","unstructured":"NaylorS(1992):Genome Data Base."},{"key":"e_1_2_1_11_1","first-page":"588","article-title":"Estimation of the recombination fraction in human pedigrees: Efficient computation of the likelihood for human linkage studies","volume":"26","author":"Ott J","year":"1974","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569213"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460515","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460515","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T01:48:58Z","timestamp":1698284938000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460515"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6,15]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,6,15]]}},"alternative-id":["10.1002\/ajmg.1320460515"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460515","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6,15]]}}}