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Article

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

Molecular genetics & genomic medicine - 1 May 2022

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

Abstract excerpt

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, genetic, and experimental investigation, followed by a prenatal diagnosis on their current pregnancy. Whole exome...

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Identifiers

PMID: 35225434
DOI: 10.1002/mgg3.1907
PMCID: PMC9034672

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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