Finally, ES revealed two additional alterations in individuals with syndromic CS–p.Arg1295* in the MN1 (P63), which was recently discovered, and subsequently linked to CS, and p.Arg305Gly in FAM111A (P136), resulting in Kenny-Caffey syndrome type 2, in which CS represents an unseen clinical feature (Table 2) (Mak et al., 2020). Here, MN1 is linked to Cowden syndrome 1.