Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen

Pretibial epidermolysis bullosa (PEB) is a rare variant of dominant dystrophic EB (DDEB) in which recurrent blistering with scarring predominantly involves the pretibial skin. Although blistering appears to be localized clinically, electron microscopy of the dermal-epidermal junction in patients wit...

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