Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, with variable clinical features, most commonly including café-au-lait macules and neurofibromas. The incidence of NF1 is approximately one in 3,000 individuals. Diffuse neurofibroma is the rarest subtype of neurofibromas.
View Article and Find Full Text PDFGene therapy serves as a promising therapy in the pipeline for treatment of epidermolysis bullosa (EB). However, with great promise, the risk of autoimmunity must be considered. While EB is a group of inherited blistering disorders caused by mutations in various skin proteins, autoimmune blistering diseases (AIBD) have a similar clinical phenotype and are caused by autoantibodies targeting skin antigens.
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