Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients
Abstract Background Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases characterized by skin fragility.Primary data on Taiwanese population remain scarce.Methods We gathered clinical information from EB patients at National Cheng Kung University Hospital from January, 2012, to June, 2021.Diagnostic tests including trans