| ［1］ |
Fine JD, Bruckner⁃Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification［J］. J Am Acad Dermatol, 2014,70（6）:1103⁃1126. DOI: 10.1016/j.jaad.2014.01.903.
|
| ［2］ |
Wertheim⁃Tysarowska K, Sobczyńska⁃Tomaszewska A, Kowalewski C, et al. The COL7A1 mutation database［J］. Hum Mutat, 2012,33（2）:327⁃331. DOI: 10.1002/humu.21651.
|
| ［3］ |
祝玉, 吴玮, 谢锦莹, 等. 显性营养不良型大疱性表皮松解症COL7A1基因突变分析［J］. 中国麻风皮肤病杂志, 2022,38（9）:607⁃613. DOI: 10.12144/zgmfskin202209607.
|
| ［4］ |
Wu N, Jin L, Wang G. A novel COL7A1 mutation in a Chinese family with epidermolysis bullosa pruriginosa［J］. Clin Lab, 2017,63（1）:157⁃161. DOI: 10.7754/Clin.Lab.2016.160705.
|
| ［5］ |
Yadav RS, Jayswal A, Shrestha S, et al. Dystrophic epidermolysis bullosa［J］. JNMA J Nepal Med Assoc, 2018,56（213）:879⁃882. DOI: 10.31729/jnma.3791.
|
| ［6］ |
Gruber C, Bogunovic D. Incomplete penetrance in primary immunodeficiency: a skeleton in the closet［J］. Hum Genet, 2020,139（6⁃7）:745⁃757. DOI: 10.1007/s00439⁃020⁃02131⁃9.
|
| ［7］ |
Raj A, van Oudenaarden A. Nature, nurture, or chance: stochastic gene expression and its consequences［J］. Cell, 2008,135（2）:216⁃226. DOI: 10.1016/j.cell.2008.09.050.
|
| ［8］ |
Raj A, Rifkin SA, Andersen E, et al. Variability in gene expression underlies incomplete penetrance［J］. Nature, 2010,463（7283）:913⁃918. DOI: 10.1038/nature08781.
|
| ［9］ |
Marinkovich MP, Paller AS, Guide SV, et al. Long⁃term safety and tolerability of beremagene geperpavec⁃svdt （B⁃VEC） in an open⁃label extension study of patients with dystrophic epidermolysis bullosa［J］. Am J Clin Dermatol, 2025,26（4）:623⁃635. doi: 10.1007/s40257⁃025⁃00942⁃y
|
| ［10］ |
Tovar Vetencourt A, Sayed⁃Ahmed I, Gomez J, et al. Ocular gene therapy in a patient with dystrophic epidermolysis bullosa［J］. N Engl J Med, 2024,390（6）:530⁃535. DOI: 10.1056/NEJMoa230 1244.
|
| ［11］ |
Has C, South A, Uitto J. Molecular therapeutics in development for epidermolysis bullosa: update 2020［J］. Mol Diagn Ther, 2020,24（3）:299⁃309. DOI: 10.1007/s40291⁃020⁃00466⁃7.
|
