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

• Autoři: KOPEČKOVÁ Lenka; BUČKOVÁ Hana; KÝROVÁ Jana; GAILLYOVÁ Renata; NĚMEČKOVÁ Jitka; JEŘÁBKOVÁ Barbora; VESELÝ Karel; STEHLÍKOVÁ Kristýna; FAJKUSOVÁ Lenka
• Rok publikování: 2016
• Druh: Článek v odborném periodiku
• Časopis / Zdroj: British Journal of Dermatology
• Fakulta / Pracoviště MU: Středoevropský technologický institut
• www: http://onlinelibrary.wiley.com/doi/10.1111/bjd.14370/epdf
• Doi: http://dx.doi.org/10.1111/bjd.14370
• Obor: Dermatovenerologie
• Klíčová slova: PEELING SKIN SYNDROME; MUTATIONS; CLASSIFICATION; SIMPLEX; GENE

Přiložené soubory

• 1354180.pdf

• Popis: 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.

Související projekty

• Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu