Spontaneous independent de novo p.Tyr129Phe mutations were shown to cause dominant mandibulofacial dysostosis with alopecia in humans and a recombinant EDNRA with the Tyr129Phe mutation is no longer able to activate downstream signaling upon stimulation with either EDN1 or EDN3 (OMIM 616367)32. This evidence concerns the gene EDN3 and alopecia.