{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T18:07:15Z","timestamp":1770833235580,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,8,13]],"date-time":"2014-08-13T00:00:00Z","timestamp":1407888000000},"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":[[2014,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>L\u00e9ri\u2013Weill dyschondrosteosis is caused by heterozygous mutations in <jats:italic>SHOX<\/jats:italic> or its flanking sequences, including whole or partial gene deletions, point mutations within the coding sequence, and deletions of downstream regulatory elements. The same mutations when biallelic cause the more severe Langer Mesomelic dysplasia. Here, we report on a consanguineous family with a novel deletion downstream of <jats:italic>SHOX<\/jats:italic> in which homozygously deleted individuals have a phenotype intermediate between L\u00e9ri\u2013Weill dyschondrosteosis and Langer Mesomelic dysplasia while heterozygously deleted individuals are mostly asymptomatic. The deleted region is distal to all previously described 3\u2032 deletions, suggesting the presence of an additional regulatory element, deletions of which have a milder, variable phenotypic effect. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36724","type":"journal-article","created":{"date-parts":[[2014,8,13]],"date-time":"2014-08-13T21:59:52Z","timestamp":1407967192000},"page":"2764-2768","source":"Crossref","is-referenced-by-count":21,"title":["Homozygosity for a novel deletion downstream of the <i>SHOX<\/i> gene provides evidence for an additional long range regulatory region with a mild phenotypic effect"],"prefix":"10.1002","volume":"164","author":[{"given":"David J.","family":"Bunyan","sequence":"first","affiliation":[{"name":"Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury Wiltshire SP2 8BJ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma\u2010Jane","family":"Taylor","sequence":"additional","affiliation":[{"name":"Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury Wiltshire SP2 8BJ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivienne K.","family":"Maloney","sequence":"additional","affiliation":[{"name":"Wessex Regional Genetics Laboratory Salisbury District Hospital Salisbury Wiltshire SP2 8BJ UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moira","family":"Blyth","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Chapel Allerton Hospital Chapeltown Road Leeds West Yorkshire LS7 4SA UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,8,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/449313"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9456"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100678"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-164"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35919"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.216"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1341"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.51.197"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30852"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/499254"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.10.1611"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.12.6289"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1148\/89.4.654"},{"key":"e_1_2_5_15_1","first-page":"1491","article-title":"Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose","volume":"53","author":"Leri A","year":"1929","journal-title":"Bull Mem Soc Med Hop Paris"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M307006200"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1142\/S0218810401000424"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-032230"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.26.3083"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl470"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-70"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36284"}],"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.36724","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36724","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T16:49:42Z","timestamp":1700671782000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36724"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,13]]},"references-count":22,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1002\/ajmg.a.36724"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36724","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,13]]}}}