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| pubmed-article:12734318 | lifeskim:mentions | umls-concept:C0029463 | lld:lifeskim |
| pubmed-article:12734318 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:12734318 | lifeskim:mentions | umls-concept:C0032339 | lld:lifeskim |
| pubmed-article:12734318 | lifeskim:mentions | umls-concept:C1335607 | lld:lifeskim |
| pubmed-article:12734318 | lifeskim:mentions | umls-concept:C0004083 | lld:lifeskim |
| pubmed-article:12734318 | pubmed:issue | 9 | lld:pubmed |
| pubmed-article:12734318 | pubmed:dateCreated | 2003-5-7 | lld:pubmed |
| pubmed-article:12734318 | pubmed:abstractText | Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes a RecQ DNA helicase, have been reported in a few RTS patients. We examined whether a predisposition to developing osteosarcoma among an international cohort of RTS patients was associated with a distinctive pattern of mutations in the RECQL4 gene. | lld:pubmed |
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| pubmed-article:12734318 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:12734318 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:12734318 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12734318 | pubmed:month | May | lld:pubmed |
| pubmed-article:12734318 | pubmed:issn | 1460-2105 | lld:pubmed |
| pubmed-article:12734318 | pubmed:author | pubmed-author:ZackaiElaine... | lld:pubmed |
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| pubmed-article:12734318 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:12734318 | pubmed:day | 7 | lld:pubmed |
| pubmed-article:12734318 | pubmed:volume | 95 | lld:pubmed |
| pubmed-article:12734318 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12734318 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12734318 | pubmed:pagination | 669-74 | lld:pubmed |
| pubmed-article:12734318 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:12734318 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:12734318 | pubmed:articleTitle | Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. | lld:pubmed |
| pubmed-article:12734318 | pubmed:affiliation | Texas Children's Cancer Center and Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA. | lld:pubmed |
| pubmed-article:12734318 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12734318 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:12734318 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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