In three separate families with progressive symmetric erythrokeratodermia, we identified two missense mutations (c.3099C&gt;G and c.3119T&gt;C) that produce p.Ile1033Met and p.Ile1040Thr, both of which are located in the S6 transmembrane domain of the TRPM4 protein.
C0265961
Erythrokeratodermia variabilis