{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T08:25:35Z","timestamp":1781166335953,"version":"3.54.1"},"reference-count":8,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,7,9]],"date-time":"2014-07-09T00:00:00Z","timestamp":1404864000000},"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":[[2014,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>The <jats:italic>c<\/jats:italic>ontiguous <jats:italic>ABCD1\/DXS1375E<\/jats:italic> (<jats:italic>BCAP31<\/jats:italic>) <jats:italic>d<\/jats:italic>eletion <jats:italic>s<\/jats:italic>yndrome (CADDS) is a rare X\u2010linked contiguous gene deletion syndrome with a severe clinical phenotype that includes marked delays, significant growth failure, liver dysfunction, and early death. The X\u2010linked creatine transporter deficiency is a considerably more common and a cause of X\u2010linked intellectual disability; however, multi\u2010exon deletions of the creatine transporter are rare. We report the fifth case of CADDS, who also has a deletion of the X\u2010linked creatine transporter. We also review reported cases of deletions in this region in order to clarify the clinical spectrum of contiguous microdeletions in this region. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36661","type":"journal-article","created":{"date-parts":[[2014,7,9]],"date-time":"2014-07-09T16:39:03Z","timestamp":1404923943000},"page":"2613-2617","source":"Crossref","is-referenced-by-count":24,"title":["Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving <i>ABCD1<\/i>, <i>BCAP31<\/i>, and <i>SLC6A8<\/i> with a new case and review of the literature"],"prefix":"10.1002","volume":"164","author":[{"given":"Amy R.U.L.","family":"Calhoun","sequence":"first","affiliation":[{"name":"Genetics and Metabolism, Department of Pediatrics University of Minnesota Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald V.","family":"Raymond","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Minnesota Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0123-4"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.023"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/340849"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440\u20101789.2012.01348.x"},{"key":"e_1_2_5_6_1","unstructured":"Online Mendelian Inheritance in Man OMIM. Johns Hopkins University Baltimore MD. MIM number: 300352: 7\/25\/2013: World Wide Web URL:http:\/\/omim.org"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.02.018"},{"key":"e_1_2_5_8_1","volume-title":"GeneReviews\u2122 [Internet]","author":"Steinberg SJ","year":"1999"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102013\u2010101658"}],"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.36661","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36661","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36661","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T20:03:54Z","timestamp":1694721834000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36661"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,9]]},"references-count":8,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1002\/ajmg.a.36661"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36661","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,9]]}}}