Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic

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Authors

KOPEČKOVÁ Lenka BUČKOVÁ Hana KÝROVÁ Jana GAILLYOVÁ Renata NĚMEČKOVÁ Jitka JEŘÁBKOVÁ Barbora VESELÝ Karel STEHLÍKOVÁ Kristýna FAJKUSOVÁ Lenka

Year of publication 2016
Type Article in Periodical
Magazine / Source British Journal of Dermatology
MU Faculty or unit

Central European Institute of Technology

Citation
Web http://onlinelibrary.wiley.com/doi/10.1111/bjd.14370/epdf
Doi http://dx.doi.org/10.1111/bjd.14370
Field Dermatovenerology
Keywords PEELING SKIN SYNDROME; MUTATIONS; CLASSIFICATION; SIMPLEX; GENE
Attached files
Description Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders characterized by blister formation. Classification of patients with EB begins with their separation into one of the four major EB groups, based on the level to which blisters develop: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. The next level of subclassification takes into account the clinical features present in a given patient, most notably the distribution and severity of cutaneous and extracutaneous disease involvement.
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