{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:48:52Z","timestamp":1760730532756,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,5]]},"abstract":"<jats:p>X linked spondyloepiphyseal dysplasia (SED) is caused by a growth defect of the vertebral bodies leading to characteristic changes in the vertebral bodies and a short trunk. The gene responsible for this disorder has previously been mapped to Xp22, with a maximum likelihood location between markers DXS16 and DXS92. We present linkage data using microsatellite markers on two Canadian X linked SED families, one of Norwegian descent and the other from Great Britain. In the Xp22 region, three recombination events have occurred in these families, two between markers DXS996 and DXS1043 and one between DXS999 and DXS989. One family shows a maximal lod score of 3.0 at theta = 0 with marker DXS1043 and the other family has a maximal lod score of 1.2 at theta = 0 with markers DXS1224 and DXS418. Both families therefore support the previously reported gene localisation.<\/jats:p>","DOI":"10.1136\/jmg.33.5.432","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"432-434","source":"Crossref","is-referenced-by-count":8,"title":["Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia."],"prefix":"10.1136","volume":"33","author":[{"given":"L E","family":"Bernard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Weksberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M I","family":"Van Allen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Langlois","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,5,1]]},"reference":[{"key":"ref_1","first-page":"99","article-title":"Atlas of skeletal dysplasias","author":"Wynne-Davies, R.; Hall, C.M.; Apley, A.G.","year":"1985","unstructured":"Wynne-Davies R, Hall CM, Apley AG. Atlas of skeletal dysplasias. New York: Churchill Livingstone, 1985:99-103."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/BF00283731","article-title":"Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the short arm of the X chromosome","volume":"81","author":"Szpiro-Tapia, S.; Sefiani, A.; Guilloud-Bataille, M.","year":"1988","unstructured":"Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, et al. Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the short arm of the X chromosome. Hum Genet 1988;81:61-3. Bernard, Chitayat, Weksberg, Van Allen, Langlois","journal-title":"Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1006\/geno.1993.1431","article-title":"The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92","volume":"18","author":"Heuertz, S.; Nelen, M.; Wilkie, A.O.M.","year":"1993","unstructured":"Heuertz S, Nelen M, Wilkie AOM, et al. The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. Genomics 1993;18:100-4.","journal-title":"Genomics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/ng0694supp-246","article-title":"The 1993-94 Genethon human genetic linkage map","volume":"7","author":"Gyapay, G.; Morissette, J.; Vignal, A.","year":"1994","unstructured":"Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nature Genet 1994;7: 246-339.","journal-title":"Nature Genet"},{"key":"ref_5","first-page":"296","article-title":"Report of the fifth international workshop on human X chromosome mapping","volume":"67","author":"Willard, H.F.; Cremers, F.; Mandel, J.L.; Monaco, A.P.; Nelson, D.L.; Schlessinger, D.","year":"1994","unstructured":"Willard HF, Cremers F, Mandel JL, Monaco AP, Nelson DL, Schlessinger D. Report of the fifth international workshop on human X chromosome mapping 1994. Cytogenet Cell Genet 1994;67:296-328.","journal-title":"Cytogenet Cell Genet"},{"key":"ref_6","first-page":"498","article-title":"Efficient computations in multilocus linkage analysis. Am7Huni Genet","volume":"42","author":"Lathrop, G.M.; Lalouel, J.M.","year":"1988","unstructured":"Lathrop GM, Lalouel JM. Efficient computations in multilocus linkage analysis. Am7Huni Genet 1988;42:498-505."},{"key":"ref_7","article-title":"Analysis of hunman genetic linkage. Revised edition","author":"Ott, J.","year":"1991","unstructured":"Ott J. Analysis of hunman genetic linkage. Revised edition. Baltimore: The Johns Hopkins University Press, 1991."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.5.432","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:27:26Z","timestamp":1760729246000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.5.432"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,5]]},"references-count":7,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1996,5,1]]},"published-print":{"date-parts":[[1996,5]]}},"alternative-id":["10.1136\/jmg.33.5.432"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.5.432","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1996,5]]}}}