Source:http://linkedlifedata.com/resource/pubmed/id/11045584
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2001-1-22
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pubmed:abstractText |
Larsen syndrome is characterized by multiple congenital joint dislocations, typical skeletal defects and facial dysmorphism. In this article, we present a female patient with asymmetric Larsen syndrome. We hypothesise that the asymmetric distribution of clinical features in our patient is likely caused by post-zygotic somatic cell-line mosaicism of a dominant gene mutation.
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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 |
Oct
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pubmed:issn |
0962-8827
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
273-6
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:11045584-Abnormalities, Multiple,
pubmed-meshheading:11045584-Bone and Bones,
pubmed-meshheading:11045584-Child,
pubmed-meshheading:11045584-Dislocations,
pubmed-meshheading:11045584-Facies,
pubmed-meshheading:11045584-Female,
pubmed-meshheading:11045584-Foot,
pubmed-meshheading:11045584-Hand,
pubmed-meshheading:11045584-Humans,
pubmed-meshheading:11045584-Mosaicism,
pubmed-meshheading:11045584-Syndrome
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pubmed:year |
2000
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pubmed:articleTitle |
A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism.
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pubmed:affiliation |
Center for Human Genetics, University Hospital of Leuven, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports
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