This activity resulted in the clinical and molecular definition of new related disorders, including Legius syndrome [MIM: 611431], Mazzanti syndrome, also known as Noonan syndrome‐like disorder with loose anagen hair (MIM: PS607721) and CBL syndrome (MIM: 613563), respectively caused by mutations in the SPRED1 (MIM: 609291), SHOC2 (MIM: 602775) and CBL (MIM: 165360) genes (Brems et al., 2007; Cordeddu et al., 2009; Martinelli et al., 2010; Niemeyer et al., 2010; Pérez et al., 2010). Here, CBL is linked to Legius syndrome.