Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1)

D. Wen, D. L. Balacco, A. Bardhan, N. Harper, D. Walsh, G. Ryan, L. Liu, A. Guy, J. A. McGrath, M. Ogboli and A. H. M. Heagerty Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham; Adult Epidermolysis Bullosa Unit, Department of Dermatology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK; West Midlands Regional Genetics Laboratory, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; National Diagnostic EB Laboratory, Viapath, St Thomas’ Hospital, London, UK; Paediatric Epidermolysis Bullosa Unit, Department of Paediatric Dermatology, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; and Institute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK

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