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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
7-8
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pubmed:dateCreated |
1980-7-12
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pubmed:abstractText |
The authors report on two cases of congenital thrombopenia with radial aplasia. Both children display several birth defects and a mild thrombopenia; hemorragic manifestations occured in the first case only. Megakaryoblastic to platelets series, as studied with electronic microscopy, show small-sized, "microcytic" and hypogranular megakaryocytes, displaying a maturative disorder (dysmegakaryocytopoiesis). In functional studies, platelets of the first patient show an imperfect nucleotidic release and do not agregate normally with ristocetin. The second case exhibits mostly a PF3 reduction. The variety of expression of the megakaryocytic-platelets disorders appears likewise in the skeletal and visceral malformations. The whole disorder could be ascribed to a pleiotropic abnormal gene with a variable expressivity.
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pubmed:language |
fre
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:author | |
pubmed:volume |
56
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
341-5
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:6246629-Blood Platelets,
pubmed-meshheading:6246629-Child, Preschool,
pubmed-meshheading:6246629-Female,
pubmed-meshheading:6246629-Hemorrhage,
pubmed-meshheading:6246629-Humans,
pubmed-meshheading:6246629-Infant,
pubmed-meshheading:6246629-Megakaryocytes,
pubmed-meshheading:6246629-Platelet Aggregation,
pubmed-meshheading:6246629-Radius,
pubmed-meshheading:6246629-Thrombocytopenia
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pubmed:articleTitle |
[Thrombopenia and radial aplasia: 2 cases with platelet function and ultrastructural studies of megakaryocytes and platelets (author's transl)].
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pubmed:publicationType |
Journal Article,
English Abstract,
Case Reports
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