{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T11:19:39Z","timestamp":1700565579602},"reference-count":19,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2006,2,24]],"date-time":"2006-02-24T00:00:00Z","timestamp":1140739200000},"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":[[2006,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 17\u2010year\u2010old man who presented with unreported combination of right sided microtia and preauricular skin tag with conductive hearing loss, unilateral renal agenesis, partial syndactyly of forth and fifth metacarpals, multiple tarsal coalitions, absent toe, and hypoplastic tibia and fibula. Radiological and clinical findings did not match with the previously described syndromes with the type of anomalies seen in the case. We propose that this represents a new syndrome. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31147","type":"journal-article","created":{"date-parts":[[2006,2,25]],"date-time":"2006-02-25T02:16:41Z","timestamp":1140833801000},"page":"747-751","source":"Crossref","is-referenced-by-count":4,"title":["A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies"],"prefix":"10.1002","volume":"140A","author":[{"given":"Yavuz","family":"Demir","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hale","family":"Samli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aylin","family":"Yucel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Deniz","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nurten Turhan","family":"Haktanir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gokhan","family":"Maralcan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Solak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,2,24]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1542\/peds.49.5.716","article-title":"Associated acral and renal malformations: A new syndrome?","volume":"49","author":"Curran AS","year":"1972","journal-title":"Pediatrics"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02862.x"},{"key":"e_1_2_4_4_1","first-page":"68","article-title":"Associated acral and renal malformation","volume":"5","author":"Dieker H","year":"1969","journal-title":"Birth Defects"},{"key":"e_1_2_4_5_1","first-page":"120","article-title":"Townes\u2010Brocks syndrome. Report of a case and review of the literature","volume":"32","author":"Ferraz FG","year":"1989","journal-title":"Ann Genet"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.10.809"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220208"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10383"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.11.e127"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510123"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01546.x"},{"key":"e_1_2_4_13_1","first-page":"89","article-title":"Townes\u2010Brocks syndrome","volume":"36","author":"Powell CM","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1268-7731(03)00018-3"},{"key":"e_1_2_4_15_1","first-page":"603","article-title":"Branchio\u2010oto\u2010renal syndrome","volume":"16","author":"Rodriguez Soriano J","year":"2003","journal-title":"J Nephrol"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000424)91:5<340::AID-AJMG3>3.0.CO;2-N"},{"key":"e_1_2_4_17_1","first-page":"109","article-title":"Townes\u2010Brocks syndrome in an infant with translocation t (5;16)","volume":"4","author":"Serville F","year":"1993","journal-title":"Genet Couns"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.108.2.e32"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.193.2.7972761"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/14.11.2763"}],"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.31147","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31147","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:09:43Z","timestamp":1697609383000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31147"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,24]]},"references-count":19,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1002\/ajmg.a.31147"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31147","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,24]]}}}