{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T07:01:31Z","timestamp":1769583691029,"version":"3.49.0"},"reference-count":11,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2008,5,13]],"date-time":"2008-05-13T00:00:00Z","timestamp":1210636800000},"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":[[2008,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Langer\u2013Giedion syndrome results from a microdeletion at 8q24.1 encompassing the <jats:italic>EXT1<\/jats:italic> and the adjacent <jats:italic>TRPS1<\/jats:italic> gene. We report on a boy with an oligo array\u2010cgh characterized small microdeletion involving <jats:italic>EXT1<\/jats:italic> alone but with some features of Langer\u2013Giedion syndrome suggesting a functional disturbance of <jats:italic>TRPS1<\/jats:italic>. This boy, in addition to a mild Langer\u2013Giedion like phenotype, also had some unusual features including prominent toe pads and fat pads on the soles of his feet similar to those described in Pierpont syndrome. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32347","type":"journal-article","created":{"date-parts":[[2008,5,13]],"date-time":"2008-05-13T21:46:50Z","timestamp":1210715210000},"page":"1587-1592","source":"Crossref","is-referenced-by-count":27,"title":["Further case of microdeletion of 8q24 with phenotype overlapping Langer\u2013Giedion without <i>TRPS1<\/i> deletion"],"prefix":"10.1002","volume":"146A","author":[{"given":"Jacqueline","family":"McBrien","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John Anthony","family":"Crolla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuwen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerry","family":"Kelleher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,5,13]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"249","article-title":"Autosomal\u2010dominant transmission of the tricho\u2010rhino\u2010phalangeal syndrome. Report of 4 unrelated families, review of 60 cases","volume":"28","author":"Giedion A","year":"1973","journal-title":"Heiv Paediat Acta"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050460"},{"key":"e_1_2_5_4_1","first-page":"147","article-title":"Langer\u2013Giedion syndrome. 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