The clinical phenotype and a novel COL7A1 mutation in a Chinese family with dystrophic epidermolysis bullosa pruriginosa
Author:
Affiliation:
1. Department of Dermatology; The Affiliated Hospital of North Sichuan Medical College; Nanchong Sichuan Province China
2. Department of Dermatology; Suining Central Hospital; Suining Sichuan Province China
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14917/fullpdf
Reference10 articles.
1. Epidermolysis bullosa pruriginosa;Cambiaghi;Dermatology,1997
2. Epidermolysis bullosa pruriginosa a clinico-pathological study in an index case, highlighting its affliction in 11 of 27 member of the family;Nijhawan;J Dermatol & Dermatol Surg,2017
3. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features[J];McGrath;Br J Dermatol,1994
4. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa;Zhu;Genet Mol Res,2014
5. Molecular basis of dystrophic epidermolysis bullosa: mutations in the Type VII collagen gene (COL7A1);Jarvikallio;Hum Mutat,1997
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Epidermolysis bullosa (EB) pruriginosa associated with recessive homozygous mutations in COL7A1 : case report of a rare EB genotype–phenotype;Journal of the European Academy of Dermatology and Venereology;2020-05-06
2. Dominant Dystrophic Epidermolysis Bullosa Pruriginosa Responding to Naltrexone Treatment;Acta Dermato Venereologica;2019
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