Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa
Abstract 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 c...
Main Authors: | Li‐min Cui, Jian‐ye Jiang, Ning‐ning Hu, Hong‐en Zou, Bao‐zhen Zhao, Cong‐ying Han, Kai Yang, Yi‐peng Wang, Huan‐xia Xing |
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Format: | Article |
Language: | English |
Published: |
Wiley
2022-05-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1907 |
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