{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T10:13:44Z","timestamp":1774606424979,"version":"3.50.1"},"reference-count":6,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2004,1,1]],"date-time":"2004-01-01T00:00:00Z","timestamp":1072915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2004]]},"abstract":"<jats:p>&lt;i&gt;Objective:&lt;\/i&gt; To investigate the phenotype and genotype of 3 unrelated children with triple A syndrome from southern Turkey. &lt;i&gt;Methods:&lt;\/i&gt; The coding sequence of the &lt;i&gt;AAAS&lt;\/i&gt; gene was sequenced including exon-intron boundaries. Haplotype analysis using markers from AAAS region was performed in order to assess potential founder effects. &lt;i&gt;Results:&lt;\/i&gt; In all 3 patients, the identical nonsense mutation (R478X) in exon 16 of the &lt;i&gt;AAAS&lt;\/i&gt; gene was identified. The patients who may be distantly related appeared phenotypically similar with the classical triad of the triple A syndrome (adrenal insufficiency, alacrima and achalasia) with dermatological manifestations while lacking neurological features except for mild mental retardation. &lt;i&gt;Conclusion:&lt;\/i&gt; The R478X mutation tends to result in a rather severe phenotype although genotype-phenotype relationships cannot be drawn due to the small number of patients.<\/jats:p>","DOI":"10.1159\/000075190","type":"journal-article","created":{"date-parts":[[2003,12,19]],"date-time":"2003-12-19T09:25:47Z","timestamp":1071825947000},"page":"3-6","source":"Crossref","is-referenced-by-count":11,"title":["Three Children with Triple A Syndrome due to a Mutation (R478X) in the &lt;i&gt;AAAS&lt;\/i&gt; Gene"],"prefix":"10.1159","volume":"61","author":[{"given":"Bilgin","family":"Yuksel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina","family":"Braun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. Kemal","family":"Topaloglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neslihan O.","family":"Mungan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guler","family":"Ozer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Huebner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2004,3,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/er.19.6.828"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/81642"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.11.5433"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000048093"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200206106"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1031047100"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/75190","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/75190","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:59:56Z","timestamp":1745467196000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000075190"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2004,3,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000075190","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004]]}}}