A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex.
Xin JiangYingyu ZhuHuihui SunFeng GuPublished in: Annals of dermatology (2020)
The present study broadens the mutational spectrum of EBS, and this knowledge could be harnessed for prenatal screening, gene diagnosis, and gene therapy for localized EBS.