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

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 HE...

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Autores principales: Xiaojing Xu, Juan Zhao, Chao Wang, Xiaoxuan Qu, Menglong Ran, Fang Ye, Ming Shen, Kundi Wang, Qi Zhang
Formato: article
Lenguaje:EN
Publicado: Frontiers Media S.A. 2021
Materias:
KLHL24
de novo pathogenic variants
epidermolysis bullosa
skin defect
follow-up
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/cb4c4c8703884daeac3920fbfa545f69
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