نتایج جستجو برای: dystrophic epidermolysis
تعداد نتایج: 5839 فیلتر نتایج به سال:
Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen - the main component of the anchoring fibrils at the dermal-epidermal junction. Besides the 730 mutations reported, we identified two novel COL7A1 gene mutations in a Chinese family, which caused recessive dystrophi...
Epidermolysis bullosa (EB) is a spectrum of conditions characterized by mechanical fragility and blistering the skin. Individuals suffering from EB display wide range symptoms based on affected proteins in different organs tissues body, including craniofacial complex oral cavity. In this case-report, 22-year-old girl with Dominant Dystrophic Bullosa presented. She suffered no other medical comp...
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