%0 Case Reports
%T A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.
%A Calì F
%A Failla P
%A Vinci M
%A Siragusa M
%A Schepis C
%J Dermatol Online J
%V 26
%N 7
%D Jul 2020 15
%M 32898404
暂无%X We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation. The findings of this study expands the clinical and  spectrum and genotype-phenotype correlation associated with EI/EH.