Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7-8
pubmed:dateCreated
1980-7-12
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.
pubmed:language
fre
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:author
pubmed:volume
56
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
341-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
[Thrombopenia and radial aplasia: 2 cases with platelet function and ultrastructural studies of megakaryocytes and platelets (author's transl)].
pubmed:publicationType
Journal Article, English Abstract, Case Reports