Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1).
David WenDario Leonardo BalaccoAjoy BardhanN HarperD WalshG RyanL LiuA GuyJohn A McGrathM OgboliAdrian H M HeagertyPublished in: Clinical and experimental dermatology (2021)