Compound heterozygousPLECmutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia
Author:
Affiliation:
1. Department of Dermatology; Peking University First Hospital; Beijing China
2. Laboratory of Electron Microscopy; Peking University First Hospital; Beijing China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Dermatology
Reference10 articles.
1. Epidermolysis bullosa simplex with muscular dystrophy;Chiaverini;Dermatol Clin,2010
2. Autosomal recessive epidermolysis bullosa simplex. Generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases;Fine;Arch Dermatol,1989
3. Epidermolysis bullosa simplex associated with muscular dystrophy and cardiac involvement;Celik;J Clin Neuromuscul Dis,2005
4. Four novel plectin gene mutations in Japanese patients with epidermolysis bullosa with muscular dystrophy disclosed by heteroduplex scanning and protein truncation tests;Takizawa;J Invest Dermatol,1999
5. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa;Smith;Nat Genet,1996
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