The heritable forms of epidermolysis bullosa (EB), a phenotypically heterogeneous group of skin fragility disorders, is currently associated with mutations in as many as 21 distinct genes. EB is primarily a disorder affecting the epithelial layers of skin and mucous membranes, without extracutaneous manifestations, and thus being non-syndromic. However, recent demonstrations of skin blistering in the spectrum of EB in multisystem disorders with single gene defects highlight the concept of syndromic EB.
Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00306932607174,00302841026182,alsfakia@gmail.com
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Σάββατο 27 Οκτωβρίου 2018
Phenotypic Spectrum of Epidermolysis Bullosa, the Paradigm of Syndromic Versus Non-Syndromic Skin Fragility Disorders
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Publication date: Available online 28 September 2017 Source: Actas Dermo-Sifiliográficas Author(s): F.J. Navarro-Triviño
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