Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex

Objectives: The aim of this study was to determine the molecular etiology and clinical manifestations of a pair of Chinese twins affected with epidermolysis bullosa simplex. Pediatricians should pay attention to the early genetic diagnosis of this disease. Methods: Histopathological examination of H...

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Detalles Bibliográficos
Autores principales: Xu, Xiaojing, Zhao, Juan, Wang, Chao, Qu, Xiaoxuan, Ran, Menglong, Ye, Fang, Shen, Ming, Wang, Kundi, Zhang, Qi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602111/
https://www.ncbi.nlm.nih.gov/pubmed/34804116
http://dx.doi.org/10.3389/fgene.2021.729628

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602111/
https://www.ncbi.nlm.nih.gov/pubmed/34804116
http://dx.doi.org/10.3389/fgene.2021.729628

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