Autosomal recessive dystrophic epidermolysis bullosa hallopeau-siemens type

An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.

Disease Alternative Name

recessive dystrophic epidermolysis bullosa
epidermolysis bullosa dystrophica
autosomal recessive
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