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

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

BackgroundDystrophic 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 family...

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Bibliographic Details
Main Authors: Yu Wang, Zhen Song, Lihua Zhang, Na Li, Jie Zhao, Ruifang Yang, Shuhua Ji, Ping Sun
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Pediatrics
Subjects:
autosomal recessive dystrophic epidermolysis bullosa
COL7A1
high-throughput sequencing analysis
compound heterozygous variants
prenatal diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.941201/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.941201/full

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