Identification of EPHB2 mutation. (A) The family tree (boxes, males; circles, females). The variant is indicated for P1 and P2 in solid black, while parents heterozygous for the mutation are indicated as half black box and circle (“+” signifies presence of the variant in one allele and “−” the WT in the other allele). (B) Sanger sequences surrounding the mutation (arrow) within the EPHB2 gene for patient P1 (upper sequence, homozygote), the mother (heterozygote), and an unaffected control. (C) Schematic representation of identified domains of the protein EPHB2. Fn, fibronectin; SAM, sterile α motif. (D) Phosphorylation of EPHB2 (EPHB2-pY594/604) in the presence or absence of Cvx (800 pM) was assessed in control and P1 platelets. Vertical lines have been inserted to indicate a repositioned gel lane.