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Although type II collagen defects have been found in some families with SED congenita, the phenotype in our family showed discordant segregation with COL2A1 gene associated restriction fragment length polymorphisms (RFLPs), the markers for the structural locus of type II collagen. It is evident that the SED group of disorders is heterogeneous.<\/jats:p>","DOI":"10.1002\/ajmg.1320370223","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:12:14Z","timestamp":1118545934000},"page":"272-276","source":"Crossref","is-referenced-by-count":33,"title":["Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen"],"prefix":"10.1002","volume":"37","author":[{"given":"Ilse J.","family":"Anderson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petros","family":"Tsipouras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carron","family":"Scher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raj S.","family":"Ramesar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W.","family":"Martell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Beighton","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":"896","article-title":"Spondyloepiphyseal dysplasia congenita: Genetic linkage to type II collagen (COL2A1)","volume":"46","author":"Anderson IJ","year":"1990","journal-title":"Am J Hum Genet."},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(84)90381-6"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(88)90165-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0174-173X(85)80023-6"},{"key":"e_1_2_1_6_1","unstructured":"HudginsL WatkinsD HydeC TsipourasP(1990) A PvuII RELP in the COL11A1 locus [pro \u03b1 (XI) collagen]Nucleic Acid Res in press."},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"13910","DOI":"10.1016\/S0021-9258(18)80086-2","article-title":"The human \u03b12 (XI) collagen (COL11A2) chain","volume":"264","author":"Kimura T","year":"1989","journal-title":"J Biol Chem"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.3.1245"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1986.tb01031.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2543071"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.108.1.191"},{"key":"e_1_2_1_12_1","first-page":"5","article-title":"Type II collagen defects in the chondrodysplasias: 1. 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