Platelet-type bleeding disorder 16
Platelet-type bleeding disorder 16
Definition
An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
Also known as bleeding disorder, platelet-type, 16, autosomal dominant, platelet-type bleeding disorder 16 — per MONDO