{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T17:40:07Z","timestamp":1697650807629},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,7,25]],"date-time":"2003-07-25T00:00:00Z","timestamp":1059091200000},"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":[[2004,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) is a late onset progressive skeletal disorder, which manifests in childhood and is characterized by disproportionate short stature with a short trunk, barrel chest and absence of systemic complications. We found a single\u2010nucleotide deletion in position 613 of the <jats:italic>SEDL<\/jats:italic> gene in two brothers of Jewish\u2010Ashkenazi ancestry afflicted with the disease. This is the first description of SEDL mutations in a Jewish family. Following this finding, an eight\u2010month old second cousin of the brothers, who had yet no clinical or radiological signs of the disease, was found to carry the deletion. Another relative, 24\u2010years old, carrying the same mutation was 1.61 m tall and had only minimal signs of the disease. These findings raise the dilemma of pre\u2010natal counseling in SEDL and the need for exploring means of early intervention in pre\u2010symptomatic cases. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20435","type":"journal-article","created":{"date-parts":[[2004,1,27]],"date-time":"2004-01-27T09:00:29Z","timestamp":1075194029000},"page":"45-48","source":"Crossref","is-referenced-by-count":10,"title":["X\u2010linked spondyloepiphyseal dysplasia tarda: A novel <i>SEDL<\/i> mutation in a Jewish Ashkenazi family and clinical intervention considerations"],"prefix":"10.1002","volume":"125A","author":[{"given":"Udy","family":"Bar\u2010Yosef","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Ohana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eli","family":"Hershkovitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarit","family":"Perlmuter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rivka","family":"Ofir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ohad S.","family":"Birk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,7,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.3.291"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.3.285"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/11976"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/320592"},{"issue":"1","key":"e_1_2_6_6_1","first-page":"S252","article-title":"X\u2010linked spondyloepiphyseal dysplasia tarda: Report of a six\u2010generation kindred, carrier detection, and natural progression","volume":"11","author":"Gottesman GS","year":"1996","journal-title":"J Bone Min Res"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-46-549-676"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00191797"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1302\/0301-620X.68B4.3733841","article-title":"Spondylo\u2010epiphyseal dysplasia tarda: The X\u2010linked variety in three brothers","volume":"68","author":"Iceton JA","year":"1986","journal-title":"J Bone Joint Surg (Br)"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M207436200"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.10.823"},{"key":"e_1_2_6_12_1","first-page":"1205","article-title":"La dysplasie spondylo\u2010epiphysaire tardive; description clinique et radiologique","volume":"65","author":"Maroteaux P","year":"1957","journal-title":"Presse Medicale"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283731"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610416.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/320594"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199901000-00002"}],"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.20435","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T17:22:41Z","timestamp":1697649761000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7,25]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,2,15]]}},"alternative-id":["10.1002\/ajmg.a.20435"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20435","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7,25]]}}}