Previously deleterious mutations in multiple genes have been associated with syndromic PDA in humans, including TBX1-associated DiGeorge syndrome, TBX5-associated Holt–Oram syndrome, PTPN11-associated Noonan syndrome, SMADIP1-associated Mowat–Wilson syndrome, CREBBP-associated Rubinstein–Taybi syndrome, TGFBR1/2-associated Loeys–Dietz syndrome, ABCC9/KCNJ8-associated Cantu syndrome, and TFAP2B-associated Char syndrome [96]. The gene discussed is TGFBR1; the disease is hypertrichotic osteochondrodysplasia Cantu type.