{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T14:09:18Z","timestamp":1756994958472},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,5,15]],"date-time":"2003-05-15T00:00:00Z","timestamp":1052956800000},"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":[[2003,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Richieri\u2010Costa\u2010Pereira syndrome is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre\/postaxial anomalies and clubfoot. Of 15 families reported with this disorder 14 are from Brazil suggesting a founder effect. We studied 15 families using identity\u2010by\u2010descent as a hypothesis to attempt gene localization We have examined through linkage analysis 497 polymorphic\u2010markers and also performed direct sequencing of exons for 10 candidate genes selected on the basis of their expression in the developing mandible and limb. No evidence for allele sharing at any locus tested or mutations in candidate genes was found. Additional higher resolution mapping, new families and other candidate genes might improve future chances of gene identification. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20270","type":"journal-article","created":{"date-parts":[[2003,8,26]],"date-time":"2003-08-26T15:23:58Z","timestamp":1061911438000},"page":"56-58","source":"Crossref","is-referenced-by-count":10,"title":["Identity by descent and candidate gene mapping of Richieri\u2010Costa and Pereira syndrome"],"prefix":"10.1002","volume":"122A","author":[{"given":"R.L.L.","family":"Ferreira de Lima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Moretti\u2010Ferreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.C.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,5,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2272(1999)16:4<337::AID-GEPI1>3.0.CO;2-T"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302011"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1265"},{"key":"e_1_2_7_5_1","first-page":"27","article-title":"Autosomal recessive short stature, Robin sequence, cleft mandible, pre\/postaxial limb anomalies, and clubfeet: Report of a patient with polydactyly of the halluces","volume":"1","author":"Guion\u2010Almeida ML","year":"1998","journal-title":"Braz J Dysmorphol Speech Hear Disord"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/316923"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420511"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470524"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5689"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<399::AID-AJMG3>3.0.CO;2-G"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19991222)87:5<430::AID-AJMG11>3.0.CO;2-9"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(01)42016-5"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/302960"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/35057185"}],"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.20270","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20270","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T17:30:38Z","timestamp":1697045438000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20270"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,15]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,9,15]]}},"alternative-id":["10.1002\/ajmg.a.20270"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20270","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,15]]}}}