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Genet."],"published-print":{"date-parts":[[1986,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The family on which this report is based is of interest because it contains individuals with 1) the branchio\u2010oto\u2010renal (BOR) syndrome who have renal hypoplasia or malformations of the kidney or collecting system including duplication; 2) only branchial and ear anomalies; and 3) apparent nonpenetrance of the syndrome.<\/jats:p>\n                  <jats:p>This report provides evidence to support the hypothesis that in some families variable expressivity includes duplication of the urinary collecting system in individuals with other manifestations of the BOR syndrome as well as individuals with branchial and ear anomalies who have apparently normal kidneys.<\/jats:p>","DOI":"10.1002\/ajmg.1320250104","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:08:39Z","timestamp":1118506119000},"page":"15-27","source":"Crossref","is-referenced-by-count":76,"title":["Branchio\u2010oto\u2010renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred"],"prefix":"10.1002","volume":"25","author":[{"given":"Audrey","family":"Heimler","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernest","family":"Lieber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.49.5.390"},{"key":"e_1_2_1_3_1","first-page":"739","article-title":"Surdit\u00e9 et fistules auriculaires cong\u00e9nitales familiales","volume":"27","author":"Bailleul JP","year":"1972","journal-title":"P\u00e9diatrie"},{"key":"e_1_2_1_4_1","first-page":"381","volume-title":"De l'atteinte de deux premi\u00e8res fentes et des deux premiers arcs branchiaux","author":"Bourguet J","year":"1966"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140405"},{"key":"e_1_2_1_6_1","first-page":"1356","article-title":"Severe renal dysgenesis produced by a dominant gene","volume":"130","author":"Fitch N","year":"1976","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020305"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070316"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140311"},{"key":"e_1_2_1_10_1","volume-title":"Malformation Syndromes","author":"Karmody CS","year":"1974"},{"issue":"7","key":"e_1_2_1_10_2","first-page":"31","author":"National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-196607000-00012"},{"key":"e_1_2_1_12_1","volume-title":"New Chromosomal and Malformation Syndromes","author":"Melnick M","year":"1975"},{"issue":"5","key":"e_1_2_1_12_2","first-page":"121","author":"National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01546.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04142.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100076313"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016486209126973"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320250104","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320250104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T20:26:42Z","timestamp":1695760002000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320250104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,9]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1986,9]]}},"alternative-id":["10.1002\/ajmg.1320250104"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320250104","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,9]]}}}