Thrombocytopenia with absent radii (Tar syndrome): New advances in the mechanism of thrombocytopenia

Pediatric Hematology and Oncology

Volumn 17, Issue 7, 2000, Pages 521-522

  Dreyfus, M ^a   Tchernia, G ^a  

^a BICÊTRE HOSPITAL   (France)

Author keywords

Megakaryocytes progenitors; Radii aplasia; TAR syndrome; Thrombocytopenia

Indexed keywords

GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; INTERLEUKIN 3; INTERLEUKIN 6; MEGAKARYOCYTE GROWTH AND DEVELOPMENT FACTOR; THROMBOPOIETIN; TYROSINE;

AGING; AUTOSOMAL RECESSIVE DISORDER; CELL ONCOGENE; COLONY FORMING UNIT; CONGENITAL HEART MALFORMATION; CULTURE MEDIUM; FACE MALFORMATION; GENE MUTATION; HUMAN; MEGAKARYOCYTE; MEGAKARYOPOIESIS; NOTE; PATHOGENESIS; PROTEIN PHOSPHORYLATION; RADIUS APLASIA; SIGNAL TRANSDUCTION; STEM CELL; SYNDROME TAR; THROMBOCYTOPENIA;

EID: 0033819385     PISSN: 08880018     EISSN: None     Source Type: Journal    
DOI: 10.1080/08880010050122771     Document Type: Note

References (8)

1. Congenital leukemia
2. Thrombocytopenia with absent radius
3. Thrombocytopenia with absent radii: A review of 100 cases
4. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: Elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin
5. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)
6. Thrombocytopenia and absent radii syndrome: Defective megakaryocytopoiesis
7. Thrombocytopenia with absent radii syndrome: Studies on serum thrombopoietin levels and megakaryocytopoiesis in vitro
8. Thrombocytopenia with absent radii: Frequency of marrow megakaryocyte progenitors, proliferative characteristics, and megakaroyocyte growth and development factor responsiveness