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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Auteurs principaux: | , , , , , , , , |
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Format: | article |
Langue: | EN |
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Frontiers Media S.A.
2021
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Accès en ligne: | https://doaj.org/article/cb4c4c8703884daeac3920fbfa545f69 |
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