European journal of dermatology : EJDHumansCarcinomaSquamous CellCodonNonsense
Co-occurrence of two monogenic diseases within a single family.
Gang Chen, Yue Zhang, Mengxing Cui, Hui Li, Shumei Zhang, Chongxian Yu, Ze Guo, Yuxi Zhang, Xiangsheng Kong, Bo Liang
Published: 202510.1684/ejd.2025.4954
Abstract
Kindler epidermolysis bullosa (KEB), a rare genodermatosis caused by loss-of-function mutations in the FERMT1 gene (encoding kindlin-1), is clinically characterized by congenital blistering, skin atrophy, poikiloderma, photosensitivity, and an increa…
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