Article
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations.
The British journal of dermatology - 1 Apr 2013
Charlesworth A, Chiaverini C, Chevrant-Breton J, DelRio M, Diociaiuti A, Dupuis R P, El Hachem M, Le Fiblec B, Sankari-Ho A M, Valhquist A, Wierzbicka E, Lacour J P, Meneguzzi G
Abstract excerpt
BACKGROUND: Genetic mutations in the plectin gene (PLEC) cause autosomal recessive forms of epidermolysis bullosa simplex (EBS) associated with either muscular dystrophy (EBS-MD) or pyloric atresia (EBS-PA). Phenotype-genotype analysis has suggested that EBS-MD is due mostly to genetic mutations affecting the central rod domain of plectin, and EBS-PA to mutations outside this domain. OBJECTIVES: This study aimed...
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