SMAD2 and Nager acrofacial dysostosis: In consideration of the fact that inhibition of SMAD2 signaling or knock out of TSP-1 (TSP-1-/AFD-VEC) protects normal vascular function in AFD-VEC, as well as in gene corrected AFD-VEC, and in light of the fact that excessive oxygen consumption is reduced in the TSP-1-/-AFD-VEC, it was concluded that the overexpression of TSP-1, resulting from the accumulation of Gb3, is more responsible for the observed dysfunction of FD-VEC.