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A. Charlesworth, C. Chiaverini, J. Chevrant-Breton, M. DelRio, A. Diociaiuti, R.P. Dupuis, M. El Hachem, B. Le Fiblec, A.M. Sankari-Ho, A. Valhquist, E. Wierzbicka, J.P. Lacour and G. Meneguzzi Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations British Journal of Dermatology 168

Version of Record online: 25 MAR 2013 | DOI: 10.1111/bjd.12202

What’s already known about this topic?

• Epidermolysis bullosa simplex (EBS) with muscular dystrophy is generally associated with mutations in the central rod domain of plectin, whereas EBS with pyloric atresia (EBS-PA) is usually lethal and linked to mutations within the plectin distal domains.

What does this study add?

• We report rare clinical EBS phenotypes associated with 11 novel genetic mutations in the plectin gene, and specifically an as-yet unreported form of nonlethal EBS-PA presenting favourable evolution with ageing.

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