Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa
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DOI: 10.1002/mgg3.1347
Abstract: Abstract Background Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐of‐function… read more here.
Keywords: variants col7a1; dystrophic epidermolysis; recessive dystrophic; epidermolysis bullosa ... See more keywords