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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2003-5-7
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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.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1460-2105
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pubmed:author |
pubmed-author:ChintagumpalaMurali MMM,
pubmed-author:Contreras-RuizJoseJ,
pubmed-author:CunniffChristopherC,
pubmed-author:EricksonRobert PRP,
pubmed-author:GannavarapuAnuA,
pubmed-author:KozinetzClaudia ACA,
pubmed-author:LevDoritD,
pubmed-author:LevyMoise LML,
pubmed-author:LewisRichard ARA,
pubmed-author:PlonSharon ESE,
pubmed-author:RogersMaureenM,
pubmed-author:Ruiz-MaldanadoRamonR,
pubmed-author:WangLisa LLL,
pubmed-author:ZackaiElaine HEH
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pubmed:issnType |
Electronic
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pubmed:day |
7
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
669-74
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:12734318-Adenosine Triphosphatases,
pubmed-meshheading:12734318-Adolescent,
pubmed-meshheading:12734318-Adult,
pubmed-meshheading:12734318-Alleles,
pubmed-meshheading:12734318-Blotting, Southern,
pubmed-meshheading:12734318-Bone Neoplasms,
pubmed-meshheading:12734318-Child,
pubmed-meshheading:12734318-Child, Preschool,
pubmed-meshheading:12734318-DNA, Complementary,
pubmed-meshheading:12734318-DNA Helicases,
pubmed-meshheading:12734318-Female,
pubmed-meshheading:12734318-Genetic Predisposition to Disease,
pubmed-meshheading:12734318-Humans,
pubmed-meshheading:12734318-Incidence,
pubmed-meshheading:12734318-Infant,
pubmed-meshheading:12734318-Male,
pubmed-meshheading:12734318-Mutation,
pubmed-meshheading:12734318-Osteosarcoma,
pubmed-meshheading:12734318-RecQ Helicases,
pubmed-meshheading:12734318-Rothmund-Thomson Syndrome,
pubmed-meshheading:12734318-Sequence Analysis, DNA
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pubmed:year |
2003
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pubmed:articleTitle |
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.
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pubmed:affiliation |
Texas Children's Cancer Center and Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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