{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T15:40:50Z","timestamp":1770133250946,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,9,21]],"date-time":"2011-09-21T00:00:00Z","timestamp":1316563200000},"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":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Langer\u2013Giedion syndrome (LGS) (OMIM 150230) is defined as a contiguous gene syndrome caused by loss of functional copies of the <jats:italic>TRPS1<\/jats:italic> and <jats:italic>EXT1<\/jats:italic> genes usually secondary to 8q microdeletion. Tibial hemimelia (TH) is the least common lower limb deficiency characterized by hypoplasia of the tibia with relatively intact fibula. We describe the third report of LGS with bilateral TH and an 8q23.1\u2010q24.12 interstitial deletion. It is not possible to exclude that this association is fortuitous, but our report reinforces the suggestion of a putative gene involved in limb development in this chromosomal region interval. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34233","type":"journal-article","created":{"date-parts":[[2011,9,24]],"date-time":"2011-09-24T17:42:46Z","timestamp":1316886166000},"page":"2784-2787","source":"Crossref","is-referenced-by-count":13,"title":["Tibial hemimelia in Langer\u2013Giedion syndrome with 8q23.1\u2010q24.12 interstitial deletion"],"prefix":"10.1002","volume":"155","author":[{"given":"Daniel Rocha","family":"Carvalho","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Savana Camilla Lima","family":"Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Dulce Valverde","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Eduardo","family":"Speck\u2010Martins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,9,21]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10781"},{"key":"e_1_2_4_3_1","first-page":"1197","article-title":"Molecular definition of the shortest region of deletion overlap in the Langer\u2013Giedion syndrome","volume":"49","author":"L\u00fcdecke HJ","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.1.31"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31239"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270414"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32615"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990806)85:4<409::AID-AJMG19>3.0.CO;2-6"},{"key":"e_1_2_4_9_1","first-page":"835","volume-title":"Human Malformations and Related Anomalies, 2e","author":"Stevenson RE","year":"2006"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00333515"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdrc.20102"}],"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.34233","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34233","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:12:41Z","timestamp":1697613161000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34233"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,21]]},"references-count":10,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["10.1002\/ajmg.a.34233"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34233","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,21]]}}}