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Figure 4: Proposed genetic relationship between keratosisichthyosis- deafness (KID) syndrome and perieccrine ostial and dermal duct nevus (PEODDN). Easton et al. hypothesize that specific mutations in the GJB2 gene have different effects on Cx26 proteins leading to phenotypic variation, especially in extent of involvement. N14Y, mutation with the amino acid tyrosine substituted for asparagine at position 14; M93I, mutation with the amino acid isoleucine substituted for methionine at position 93; Cx26, connexin26 protein. |