{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T17:46:44Z","timestamp":1767116804077},"reference-count":13,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2007,6,29]],"date-time":"2007-06-29T00:00:00Z","timestamp":1183075200000},"content-version":"unspecified","delay-in-days":7088,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Laryngol. Otol."],"published-print":{"date-parts":[[1988,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The major features of the Branchio-Oto-Renal syndrome (BOR syndrome), an autosomal dominant disorder, are branchial remnants, ear anomalies, deafness and renal dysplasia.<\/jats:p><jats:p>We report two family groups affected by the BOR syndrome: in two-thirds of the affected children renal abnormalities led to severe renal insufficiency in early life. The necessity for a meticulous search for renal anomalies in individuals with aural and\/or branchial abnormalities is emphasized. In affected families, genetic counselling is suggested.<\/jats:p>","DOI":"10.1017\/s0022215100104335","type":"journal-article","created":{"date-parts":[[2007,11,30]],"date-time":"2007-11-30T05:22:30Z","timestamp":1196400150000},"page":"138-141","source":"Crossref","is-referenced-by-count":14,"title":["The branchio-oto-renal syndrome"],"prefix":"10.1017","volume":"102","author":[{"given":"M.","family":"Raspino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Tarantino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Moni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Verrina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. R.","family":"Ciardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Gusmano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2007,6,29]]},"reference":[{"key":"S0022215100104335_ref002","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140405"},{"key":"S0022215100104335_ref009","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070316"},{"key":"S0022215100104335_ref012","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04142.x"},{"key":"S0022215100104335_ref011","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01546.x"},{"key":"S0022215100104335_ref003","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1159\/000166630","article-title":"The branchio-oto-renal syndrome","volume":"2","author":"C\u00f4te'","year":"1982","journal-title":"American Journal of Nephrology"},{"key":"S0022215100104335_ref001","doi-asserted-by":"publisher","DOI":"10.1007\/BF00454270"},{"key":"S0022215100104335_ref010","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.144.1.7089245"},{"key":"S0022215100104335_ref008","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020305"},{"key":"S0022215100104335_ref006","first-page":"1356","article-title":"Severe renal dysgenesis produced by a dominant gene","volume":"130","author":"Fitch","year":"1976","journal-title":"American Journal of Disease of Children"},{"key":"S0022215100104335_ref005","first-page":"67","article-title":"Glomeru-lar lesion in the branchio-oto-renal (BOR) syndrome","volume":"3","author":"Dumas","year":"1982","journal-title":"The International Journal of Pediatric Nephrology"},{"key":"S0022215100104335_ref004","first-page":"849","article-title":"Le syndrome malformatif branchio-oto-renal","volume":"96","author":"Desnos","year":"1979","journal-title":"Annales d' Oto-Laryngologie"},{"key":"S0022215100104335_ref013","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-197309000-00007"},{"key":"S0022215100104335_ref007","doi-asserted-by":"publisher","DOI":"10.1177\/000348947608500212"}],"container-title":["The Journal of Laryngology &amp; Otology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0022215100104335","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T16:30:29Z","timestamp":1558369829000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0022215100104335\/type\/journal_article"}},"subtitle":["(Report of two family groups)"],"short-title":[],"issued":{"date-parts":[[1988,2]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1988,2]]}},"alternative-id":["S0022215100104335"],"URL":"https:\/\/doi.org\/10.1017\/s0022215100104335","relation":{},"ISSN":["0022-2151","1748-5460"],"issn-type":[{"value":"0022-2151","type":"print"},{"value":"1748-5460","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,2]]}}}