نتایج جستجو برای: dystrophic epidermolysis bullosa
تعداد نتایج: 6516 فیلتر نتایج به سال:
Genodermatoses are quite frequent in developing countries where consanguinity is common but usually under reported and undiagnosed. Main reason being lack of accessibility to tertiary health care facilities for people rural areas as evident case below. Genetic counselling pre natal testing utmost importance affected families. Epidermolysis bullosa pruriginosa (EBP) a rare less recognized varian...
Abstract Background: Epidermolysis bullosa is an uncommon disease with a wide spectrum of severity. Here we report a patient presenting with unusual symptoms. Case Report: The patient is a 22 years old female with progressive dysphasia and odynophagia to solids and liquids and a history of spontaneously remitting blisters caused after mild trauma from her childhood till she was 13 years old...
Clonal gene therapy protocols based on the precise manipulation of epidermal stem cells require highly efficient gene-editing molecular tools. We have combined adeno-associated virus (AAV)-mediated delivery of donor template DNA with transcription activator-like nucleases (TALE) expressed by adenoviral vectors to address the correction of the c.6527insC mutation in the COL7A1 gene, causing rece...
Epidermolysis bullosa acquisita is a severe autoimmune subepidermal bullous disease. In this report, we described for the first time a patient with epidermolysis bullosa acquisita who developed acute renal failure. There is a possibility that epidermolysis bullosa acquisita and acute renal failure's pathogenesis shared some common autoimmune pathways. Moreover, acute blood volume reduction may ...
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