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Article

Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa.

Molecular genetics & genomic medicine - 1 Aug 2020

Yang Neng, Ma Yongyi, Yao Hong, Chang Qing, Zhang Victor, Liang Zhiqing, Cai Xiongwei

Abstract excerpt

BACKGROUND: Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss-of-function mutation in the gene encoding type VII collagen (COL7A1). This study aimed to identify the causative variants of a Chinese RDEB patient and further...

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PMID: 32537942
DOI: 10.1002/mgg3.1347
PMCID: PMC7434731

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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