{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:09:17Z","timestamp":1745554157766,"version":"3.40.4"},"reference-count":8,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Audiol Neurotol"],"published-print":{"date-parts":[[2006]]},"abstract":"<jats:p>This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as &lt;i&gt;DFNA24&lt;\/i&gt;. For this pedigree, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within this kindred the HI is sensorineural, bilateral, prelingual in onset, and progressive throughout life. Age-related typical audiograms depict steeply down-sloping curves, with moderate high-frequency HI at birth, then steady progression to moderate HI in the low frequencies, severe HI at mid-frequencies and profound HI at high frequencies by age 70. Annual threshold deterioration was \u223c0.5 dB\/year at 1\u20132 kHz after correction for presbycusis.<\/jats:p>","DOI":"10.1159\/000093525","type":"journal-article","created":{"date-parts":[[2006,5,24]],"date-time":"2006-05-24T10:56:02Z","timestamp":1148468162000},"page":"269-275","source":"Crossref","is-referenced-by-count":3,"title":["Phenotypic Characterization of &lt;i&gt;DFNA24&lt;\/i&gt;: Prelingual Progressive Sensorineural Hearing Impairment"],"prefix":"10.1159","volume":"11","author":[{"given":"Regie Lyn P.","family":"Santos","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franziska M.","family":"H\u00e4fner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick L.M.","family":"Huygen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas E.","family":"Linder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert A.","family":"Schinzel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Spillmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanne M.","family":"Leal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2006,10,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1523%2FJNEUROSCI.2110-05.2005"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F5.8.1187"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1086%2F302865"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1080%2F16513860310003049"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2F35057062"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1086%2F426405"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1097%2F00129492-200501000-00009"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.nbd.2005.01.019"}],"container-title":["Audiology and Neurotology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/93525","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/93525","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:13:25Z","timestamp":1745464405000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000093525"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2006,10,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000093525","archive":["Portico"],"relation":{},"ISSN":["1420-3030","1421-9700"],"issn-type":[{"type":"print","value":"1420-3030"},{"type":"electronic","value":"1421-9700"}],"subject":[],"published":{"date-parts":[[2006]]}}}