A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa

A de novo missense mutation in the NC1 domain of type VII collagen leads to dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa (DEB) is a genetic mechanobullous skin disorder that manifests at birth or in early infancy. The hallmarks of DEB are blister formation, skin fragility, and nail dystrophy following minor trauma. The disorder results from mutations in the type VII collagen gene (COL7...

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Bibliographic Details
Main Authors: Ping Cheng, Yingda Wu, Wanlu Zhang, Yuanyuan Zhang, Weixue Jia, Chengrang Li
Format: Article
Language:English
Published: Termedia Publishing House 2022-07-01
Series:Advances in Dermatology and Allergology
Online Access:https://www.termedia.pl/A-de-novo-missense-mutation-in-the-NC1-domain-r-nof-type-VII-collagen-leads-to-dystrophic-epidermolysis-r-nbullosa,7,47324,1,1.html

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