{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T17:38:35Z","timestamp":1770745115279,"version":"3.49.0"},"reference-count":6,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T00:00:00Z","timestamp":1390435200000},"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":[[2014,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on the natural history of a female with dominant omodysplasia, a rare osteochondrodysplasia with short stature, rhizomelia of the extremities (upper extremities more affected), and short first metacarpals. The proband had normal molecular analysis of the glypican 6 gene (<jats:italic>GPC6<\/jats:italic>), which was recently reported as a candidate for autosomal recessive omodysplasia. The findings in this patient were compared to other known and suspected cases of autosomal dominant omodysplasia. Mild rhizomelic shortening of the lower extremities has not been previously reported. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36408","type":"journal-article","created":{"date-parts":[[2014,1,23]],"date-time":"2014-01-23T23:46:35Z","timestamp":1390520795000},"page":"1234-1238","source":"Crossref","is-referenced-by-count":6,"title":["Long\u2010term observation of a patient with dominant omodysplasia"],"prefix":"10.1002","volume":"164","author":[{"given":"Barbara L.","family":"Gordon","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neena L.","family":"Champaigne","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. Curtis","family":"Rogers","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaime L.","family":"Frias","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of South Florida Tampa Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jules G.","family":"Leroy","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,23]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"52","article-title":"Autosomal recessive omodysplasia","volume":"4","author":"Al Gazali L","year":"1995","journal-title":"Clin Dysmorph"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng730"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.05.002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320321"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10555"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"}],"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.36408","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36408","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T16:03:05Z","timestamp":1696608185000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36408"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,23]]},"references-count":6,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1002\/ajmg.a.36408"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36408","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,23]]}}}