{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:15:13Z","timestamp":1760188513787},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5663,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Abnormalities of type II collagen have been considered strong candidates for causing human chondrody splasias. We have employed peptide mapping to screen for several types of type II collagen abnormalities in cartilage samples from 66 patients with 20 separate disorders. Except for achondrogenesis type II (Langer\u2010Saldino) and spondyloepiphyseal dysplasia (SED) congenita in which abnormalities have been described and diastrophic dysplasia in which the changes were probably secondary, no abnormalities were detected. Within the limitations of the screening technique, the results combined with other data from the literature suggest that abnormalities of this molecule are not common causes of chondrody splasias outside of the achondrogenesis type II\u2010SED congenita family of disorders.<\/jats:p>","DOI":"10.1002\/ajmg.1320340425","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:32:15Z","timestamp":1118547135000},"page":"579-583","source":"Crossref","is-referenced-by-count":22,"title":["Type II collagen screening in the human chondrodysplasias"],"prefix":"10.1002","volume":"34","author":[{"given":"William A.","family":"Horton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dianna","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirta A.","family":"Machado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Chou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"659","article-title":"Expression of the human chondrocyte phenotyp in vitro","volume":"25","author":"Aulthouse AL","year":"1989","journal-title":"In Vitro"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/edrv-6-4-544"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","unstructured":"ElimaK KaitilaI MikonojaL ElonsaloUK PeltonenL VuorioE(1989):Exclusion of the COL2A1 gene as the mutation site in diastrophic dysplasia. 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