{Reference Type}: Case Reports
{Title}: A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.
{Author}: Calì F;Failla P;Vinci M;Siragusa M;Schepis C;
{Journal}: Dermatol Online J
{Volume}: 26
{Issue}: 7
{Year}: Jul 2020 15
暂无{Abstract}: 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.