Accordingly, in a recent work we found that some RSTS-like patients found negative for mutations in the two causative genes turned out to be carriers of variants in other chromatinopathies genes such as KMT2D (associated to Kabuki syndrome, KS; OMIM #147920), ASXL1 (associated to Bohring–Opitz syndrome, BOS; OMIM #605039), and KMT2A (associated to Wiedemann–Steiner syndrome WDSTS; OMIM #605130) by WES analysis [24]. This evidence concerns the gene KMT2D and Buschke-Ollendorff syndrome.