{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T15:35:46Z","timestamp":1768750546414,"version":"3.49.0"},"reference-count":16,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatology"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; X-linked recessive hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a rare genodermatosis characterized clinically by developmental abnormalities affecting the teeth, hair and sweat glands. Mutations in the &lt;i&gt;EDA-A1&lt;\/i&gt; gene have been associated with XLHED. Recently, mutations in the &lt;i&gt;EDA-A1&lt;\/i&gt; gene have also been implicated in isolated X-linked recessive hypodontia (XLRH; OMIM 313500). &lt;i&gt;Methods:&lt;\/i&gt; We analyzed the DNA from members of 3 unrelated Pakistani families with XLRH for mutations in the &lt;i&gt;EDA-A1&lt;\/i&gt; gene through direct sequencing and performed haplotype analysis. &lt;i&gt;Results:&lt;\/i&gt; We identified a common missense mutation in both families designated c.1091T\u2192C (p.M364T). Haplotype analysis revealed that this is a founder mutation in the 3 families. &lt;i&gt;Conclusion:&lt;\/i&gt; XLHED is a syndrome with variable clinical presentations that contain a spectrum of findings, including hypodontia. We suggest that XLRH should be grouped under XLHED as both share several phenotypic and genotypic similarities.<\/jats:p>","DOI":"10.1159\/000314329","type":"journal-article","created":{"date-parts":[[2010,7,13]],"date-time":"2010-07-13T07:02:39Z","timestamp":1279004559000},"page":"243-247","source":"Crossref","is-referenced-by-count":6,"title":["A Common Founder Mutation in the &lt;i&gt;EDA-A1&lt;\/i&gt; Gene in X-Linked Hypodontia"],"prefix":"10.1159","volume":"221","author":[{"given":"Mazen","family":"Kurban","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleni","family":"Michailidis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Wajid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Shimomura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela M.","family":"Christiano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,7,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F7.11.1661"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2F11937"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2F414913a"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0895-409"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016%2FS1359-6101%2803%2900020-0"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F10.9.953"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2009.127"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.290.5491.523"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.32855"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1371%2Fjournal.pone.0002396"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10038-008-0323-x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1600-0722.2008.00555.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ejmg.2008.06.002"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M101280200"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1177%2F0022034508328627"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F8.11.2079"}],"container-title":["Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/314329","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/314329","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:20:10Z","timestamp":1745436010000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000314329"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":16,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2010,10,1]]},"published-print":{"date-parts":[[2010,11,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000314329","archive":["Portico"],"relation":{},"ISSN":["1018-8665","1421-9832"],"issn-type":[{"value":"1018-8665","type":"print"},{"value":"1421-9832","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010]]}}}