Identification of Novel KRT5 Gene Variants in Two Chinese Sporadic Cases of Epidermolysis Bullosa Simplex
This study aimed to identify pathogenic gene variants in two Chinese sporadic cases of EBS. Blood samples were collected from the patients and their parents, and next-generation sequencing (NGS) was used for variant screening. Two novel variants within the KRT5 gene were identified: c.1399A>T (p.Ile467Phe) in patient 1 and c.1412G>A (p.Arg471His) in patient 2.