Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability. In the present study, we recruited a case with a boy exhibiting typical DEB indication, and performed a clinical,...

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Detalles Bibliográficos
Autores principales: Cui, Li‐min, Jiang, Jian‐ye, Hu, Ning‐ning, Zou, Hong‐en, Zhao, Bao‐zhen, Han, Cong‐ying, Yang, Kai, Wang, Yi‐peng, Xing, Huan‐xia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034672/
https://www.ncbi.nlm.nih.gov/pubmed/35225434
http://dx.doi.org/10.1002/mgg3.1907

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