pubmed-article:10626546 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:10626546 | lifeskim:mentions | umls-concept:C0265309 | lld:lifeskim |
pubmed-article:10626546 | lifeskim:mentions | umls-concept:C0596611 | lld:lifeskim |
pubmed-article:10626546 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
pubmed-article:10626546 | lifeskim:mentions | umls-concept:C1420041 | lld:lifeskim |
pubmed-article:10626546 | pubmed:issue | 433 | lld:pubmed |
pubmed-article:10626546 | pubmed:dateCreated | 2000-1-27 | lld:pubmed |
pubmed-article:10626546 | pubmed:abstractText | Dyschondrosteosis is an autosomal dominant form of mesomelic dysplasia that is often combined with a deformity of the forearms called Madelung deformity. Based on the observation of X-Y translocations (p22,q12) in patients with dyschondrosteosis, the authors tested the pseudoautosomal region in eight affected families and showed linkage of the dyschondrosteosis gene to a microsatellite DNA marker at the DXYS233 locus (Zmax = 6.26 at theta = 0). Since the short stature homeobox-containing gene (SHOX) involved in idiopathic growth retardation and possibly Turner syndrome maps to this region, SHOX was regarded as a strong candidate gene for dyschondrosteosis. This article reports the detection of large-scale SHOX deletions in seven of the eight families and a nonsense mutation of SHOX in the remaining family affected with dyschondrosteosis. Additional evidence suggests that Langer mesomelic dwarfism results from homozygous mutations at the genetic locus responsible for dyschondrosteosis. | lld:pubmed |
pubmed-article:10626546 | pubmed:language | eng | lld:pubmed |
pubmed-article:10626546 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:10626546 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:10626546 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:10626546 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:10626546 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:10626546 | pubmed:month | Dec | lld:pubmed |
pubmed-article:10626546 | pubmed:issn | 0803-5326 | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:VekemansMM | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:VionMM | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:MunnichAA | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:MonclaAA | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:Le MerrerMM | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:ToutainAA | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:BelinVV | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:Cormier-Daire... | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:GirlichDD | lld:pubmed |
pubmed-article:10626546 | pubmed:author | pubmed-author:CusikSS | lld:pubmed |
pubmed-article:10626546 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:10626546 | pubmed:volume | 88 | lld:pubmed |
pubmed-article:10626546 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:10626546 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:10626546 | pubmed:pagination | 55-9 | lld:pubmed |
pubmed-article:10626546 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
pubmed-article:10626546 | pubmed:meshHeading | pubmed-meshheading:10626546... | lld:pubmed |
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pubmed-article:10626546 | pubmed:meshHeading | pubmed-meshheading:10626546... | lld:pubmed |
pubmed-article:10626546 | pubmed:year | 1999 | lld:pubmed |
pubmed-article:10626546 | pubmed:articleTitle | SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome. | lld:pubmed |
pubmed-article:10626546 | pubmed:affiliation | Département de Génétique, INSERM U 393, Hôpital des Enfants Malades, Paris, France. | lld:pubmed |
pubmed-article:10626546 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:10626546 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10626546 | lld:pubmed |
http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:10626546 | lld:pubmed |