{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:03:26Z","timestamp":1791234206849,"version":"4.1.0"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,3,25]],"date-time":"2005-03-25T00:00:00Z","timestamp":1111708800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present two unrelated individuals with complete deficiency of tenascin\u2010X, resulting in an autosomal recessive form of Ehlers\u2013Danlos syndrome (EDS). Consistent with the original description of tenascin\u2010X deficiency, these individuals had marked skin hyperextensibility, easy bruising, and joint laxity. Unlike classical EDS they did not have atrophic scarring or poor wound healing. Significant medical problems occurring in these individuals included severe diverticular intestinal disease, mitral valve prolapse requiring valve replacement, and obstructive airway disease. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30671","type":"journal-article","created":{"date-parts":[[2005,3,25]],"date-time":"2005-03-25T20:16:39Z","timestamp":1111781799000},"page":"75-80","source":"Crossref","is-referenced-by-count":58,"title":["Tenascin\u2010X deficiency in autosomal recessive Ehlers\u2013Danlos syndrome"],"prefix":"10.1002","volume":"135A","author":[{"given":"Noralane M.","family":"Lindor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Bristow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.122.1.265"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-104"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-4165(00)00158-6"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2443.2001.00482.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.17.6582"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa002939"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/376564"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30671","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30671","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T15:16:47Z","timestamp":1696951007000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30671"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,25]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,5,15]]}},"alternative-id":["10.1002\/ajmg.a.30671"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30671","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,25]]}}}