Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.

Nellen, Ruud G L

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1. [electronic resource] - Experimental dermatology Nov 2015 - 883-5 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1600-0625

10.1111/exd.12786 doi


Child, Preschool
Humans
Hyperkeratosis, Epidermolytic--genetics
Keratin-1--genetics
Male
Phenotype