In 2013, Wooderchak-Donahue and colleagues identified heterozygous pathogenic missense variants in GDF2 (chromosome 10q11.22 in humans, which encodes BMP9) in three patients with recurrent epistaxis and dermal telangiectasias (although with a slightly different distribution more similar to CM-AVM than classical HHT) [35]. Here, GDF2 is linked to cutaneous mastocytosis.