Epidermolysis bullosa, hemidesmosomal
Definition:
References:
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[1]. Daisuke Sawamura, et al. Overview of epidermolysis bullosa. J Dermatol. 2010 Mar;37(3):214-9. [Content Brief]
[2]. Dörte Koss-Harnes, et al. A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J Invest Dermatol. 2002 Jan;118(1):87-93. [Content Brief]
[3]. Hiroyuki Nakamura, et al. Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1). J Mol Diagn. 2005 Feb;7(1):28-35. [Content Brief]
[4]. Jouni Uitto, et al. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol. 2005 Jan-Feb;23(1):33-40. [Content Brief]
[5]. Maria C Bolling, et al. PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. J Invest Dermatol. 2010 Apr;130(4):1178-81. [Content Brief]
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