Source:http://linkedlifedata.com/resource/pubmed/id/15578583
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2004-12-28
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pubmed:abstractText |
In 1994, Giuffré et al. reported two unrelated families in which some of the members had microcephaly and radio-ulnar synostosis, suggesting a new condition. Since this first report, Tsukahara et al. and Udler et al. described two distinct patients with a different condition characterized by radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. Here we report on a new case of microcephaly and radio-ulnar synostosis and discuss the possible relationship between Tsukahara's syndrome and the phenotype described by Giuffré et al.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1552-4825
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
132A
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
189-90
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:15578583-Abnormalities, Multiple,
pubmed-meshheading:15578583-Child, Preschool,
pubmed-meshheading:15578583-Humans,
pubmed-meshheading:15578583-In Situ Hybridization, Fluorescence,
pubmed-meshheading:15578583-Intellectual Disability,
pubmed-meshheading:15578583-Karyotyping,
pubmed-meshheading:15578583-Male,
pubmed-meshheading:15578583-Microcephaly,
pubmed-meshheading:15578583-Radius,
pubmed-meshheading:15578583-Scoliosis,
pubmed-meshheading:15578583-Syndrome,
pubmed-meshheading:15578583-Synostosis,
pubmed-meshheading:15578583-Ulna
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pubmed:year |
2005
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pubmed:articleTitle |
Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.
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pubmed:affiliation |
Clinica Pediatrica De Marchi, I Clinica Pediatrica, Milano, Italy. ambulatorio@gencli.it
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pubmed:publicationType |
Journal Article,
Review,
Case Reports
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