Epidermolysis bullosa simplex associated with muscular dystrophy: Phenotype-genotype correlations and review of the literature
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference22 articles.
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2. Plectin and human genetic disorders of the skin and muscle: the paradigm of epidermolysis bullosa with muscular dystrophy;Uitto;Exp Dermatol,1996
3. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa;Smith;Nat Genet,1996
4. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization;McLean;Genes Dev,1996
5. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy;Chavanas;J Clin Invest,1996
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5. Pediatric Ophthalmoplegia and Ptosis in Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy;Journal of Pediatric Ophthalmology & Strabismus;2018-11-19
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