Genetic analysis and prenatal diagnosis of recessive dystrophic epidermolysis bullosa caused by compound heterozygous variants of the COL7A1 gene in a Chinese family

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly caused by mutations in the gene encoding type VII collagen (COL7A1). The purpose of this study was to identify the causative genetic variants and further perform genetic diagnosis in a Chinese famil...

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Detalles Bibliográficos
Autores principales: Wang, Yu, Song, Zhen, Zhang, Lihua, Li, Na, Zhao, Jie, Yang, Ruifang, Ji, Shuhua, Sun, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676484/
https://www.ncbi.nlm.nih.gov/pubmed/36419915
http://dx.doi.org/10.3389/fped.2022.941201

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