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rdf:type |
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|
lifeskim:mentions |
|
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pubmed:issue |
2
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pubmed:dateCreated |
2008-7-23
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|
pubmed:abstractText |
The purpose of this study was to summarize the radiographic skeletal findings in patients with Rothmund-Thomson syndrome (RTS) and to determine whether there is an association between the presence of skeletal abnormalities and the mutational status of 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 |
AIM
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|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
1546-3141
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|
pubmed:author |
|
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pubmed:issnType |
Electronic
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pubmed:volume |
191
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
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pubmed:pagination |
W62-6
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pubmed:dateRevised |
2008-9-20
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|
pubmed:meshHeading |
pubmed-meshheading:18647888-Adolescent,
pubmed-meshheading:18647888-Adult,
pubmed-meshheading:18647888-Child,
pubmed-meshheading:18647888-Child, Preschool,
pubmed-meshheading:18647888-Female,
pubmed-meshheading:18647888-Genotype,
pubmed-meshheading:18647888-Humans,
pubmed-meshheading:18647888-Infant,
pubmed-meshheading:18647888-Limb Deformities, Congenital,
pubmed-meshheading:18647888-Male,
pubmed-meshheading:18647888-Mutation,
pubmed-meshheading:18647888-Phenotype,
pubmed-meshheading:18647888-RecQ Helicases,
pubmed-meshheading:18647888-Rothmund-Thomson Syndrome
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|
pubmed:year |
2008
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|
pubmed:articleTitle |
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.
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pubmed:affiliation |
Department of Radiology, Baylor College of Medicine, Houston, TX 77030, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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