We have previously shown that gain-of-function variations in transient receptor potential vanilloid-3 (TRPV3) underlay Olmsted syndrome, a rare hyperkeratotic skin channelopathy. In this study, we attempt to establish genotype‒phenotype correlation which has been unclear owing the rarity and heterogeneity of condition. identified five unreported TRPV3 (R416Q, R416W, L655P, W692S, L694P) three r...