| pubmed-article:9590292 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9590292 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:9590292 | lifeskim:mentions | umls-concept:C0265309 | lld:lifeskim |
| pubmed-article:9590292 | lifeskim:mentions | umls-concept:C1420041 | lld:lifeskim |
| pubmed-article:9590292 | pubmed:issue | 1 | lld:pubmed |
| pubmed-article:9590292 | pubmed:dateCreated | 1998-5-29 | lld:pubmed |
| pubmed-article:9590292 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9590292 | pubmed:abstractText | Dyschondrosteosis (DCS) is an autosomal dominant form of mesomelic dysplasia with deformity of the forearm (Madelung deformity; ref. 3). Based on the observation of XY translocations (p22,q12; refs 4-6) in DCS patients, we tested the pseudoautosomal region in eight families with DCS and showed linkage of the DCS gene to a microsatellite DNA marker at the DXYS233 locus (Zmax=6.26 at theta=0). The short stature homeobox-containing gene (SHOX), involved in idiopathic growth retardation and possibly Turner short stature, maps to this region and was therefore regarded as a strong candidate gene in DCS. Here, we report large-scale deletions (in seven families) and a nonsense mutation (in one family) of SHOX in patients with DCS and show that Langer mesomelic dwarfism results from homozygous mutations at the DCS locus. | lld:pubmed |
| pubmed-article:9590292 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9590292 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9590292 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9590292 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9590292 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9590292 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9590292 | pubmed:month | May | lld:pubmed |
| pubmed-article:9590292 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:VekemansMM | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:VionMM | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:MunnichAA | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:MonclaAA | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:Le MerrerMM | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:ToutainAA | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:BelinVV | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:Cormier-Daire... | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:GirlichDD | lld:pubmed |
| pubmed-article:9590292 | pubmed:author | pubmed-author:CusikSS | lld:pubmed |
| pubmed-article:9590292 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9590292 | pubmed:volume | 19 | lld:pubmed |
| pubmed-article:9590292 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9590292 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9590292 | pubmed:pagination | 67-9 | lld:pubmed |
| pubmed-article:9590292 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
| pubmed-article:9590292 | pubmed:meshHeading | pubmed-meshheading:9590292-... | lld:pubmed |
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| pubmed-article:9590292 | pubmed:meshHeading | pubmed-meshheading:9590292-... | lld:pubmed |
| pubmed-article:9590292 | pubmed:meshHeading | pubmed-meshheading:9590292-... | lld:pubmed |
| pubmed-article:9590292 | pubmed:meshHeading | pubmed-meshheading:9590292-... | lld:pubmed |
| pubmed-article:9590292 | pubmed:meshHeading | pubmed-meshheading:9590292-... | lld:pubmed |
| pubmed-article:9590292 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9590292 | pubmed:articleTitle | SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). | lld:pubmed |
| pubmed-article:9590292 | pubmed:affiliation | Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U393, Hôpital des Enfants Malades, Paris, France. | lld:pubmed |
| pubmed-article:9590292 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9590292 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6473 | entrezgene:pubmed | pubmed-article:9590292 | lld:entrezgene |
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