نتایج جستجو برای: kindler
تعداد نتایج: 219 فیلتر نتایج به سال:
EB is a prototypic and heterogeneous group of inherited bullous disorders characterized by detachment the epithelium following minimal mechanical trauma. The phenotypic spectrum broad, with persistent blistering, inflammation, delayed re-epithelialization, dysfunctional wound healing often infection, leading to disability and, in most severe cases, death. classified into four subtypes: simplex ...
Kindler syndrome is a rare autosomal-recessive genodermatosis characterized by bullous poikiloderma with photosensitivity. We report the localization to chromosome 20p12.3 by homozygosity mapping and the identification of a new gene, which we propose to name kindlerin. We found four different homozygous mutations in four consanguineous families from North Africa and Senegal; three are expected ...
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