Conditions / Genetic

platelet-type bleeding disorder 14

info ยท Genetic

A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34.

Also known as: BDPLT14; thromboxane synthase deficiency