|
?:definition
|
-
A rare genetic isolated constitutional thrombocytopenia disease with characteristics of impaired platelet aggregation resulting from a defect in thromboxane synthesis or signaling, manifesting with mild to moderate mucocutaneous, gastrointestinal or surgical bleeding (for example easy bruising, prolonged epistaxis, excessive bleeding after a tooth extraction). Conferred by heterozygous mutation in the gene encoding the thromboxane A2 receptor (TBXA2R) on chromosome 19p13.
|
![[This page as RDF]](https://research.tib.eu/covid-19/static/rdf-icon.gif){kind=icon}