The findings from Amyere et al.6 and Wooderchak-Donahue et al.9 led to the identification in our genetics clinic of two index cases presenting with familial telangiectasia with novel variants in EPHB4. There were five affected individuals from two families (VA1 and VA2) who presented with HHT-like features (Fig. 1d, e). This evidence concerns the gene EPHB4 and hereditary hemorrhagic telangiectasia.