Epidermolysis Bullosa Simplex with Muscular Dystrophy
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference33 articles.
1. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB;Fine;J Am Acad Dermatol,2008
2. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy;Gache;J Clin Invest,1996
3. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1);Nakamura;J Mol Diagn,2005
4. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization;McLean;Genes Dev,1996
5. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy;Pulkkinen;Hum Mol Genet,1996
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1. Epidermolysis Bullosa Simplex with Muscular Dystrophy;Genetic Syndromes;2023
2. Mutation update: The spectra of PLEC sequence variants and related plectinopathies;Human Mutation;2022-07-29
3. Pathogenetic Therapy of Epidermolysis Bullosa: Current State and Prospects;Bulletin of Experimental Biology and Medicine;2021-05-29
4. Functional therapies for cutaneous wound repair in epidermolysis bullosa;Advanced Drug Delivery Reviews;2018-04
5. Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report;Journal of Dermatological Case Reports;2017-03-25
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