title: Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype.
authors.affiliation: Department of Dermatology, St. Vincent's University Hospital, Dublin, Ireland. lcunningham73@gmail.com.
authors.forename: L
authors.initials: L
authors.lastname: Cunningham
authors.affiliation: Viapath, St. Thomas' Hospital, London, UK.
authors.forename: L
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Dermatology, St. Vincent's University Hospital, Dublin, Ireland.
authors.forename: S
authors.initials: S
authors.lastname: Menzies
authors.affiliation: Viapath, St. Thomas' Hospital, London, UK.|St John's Institute of Dermatology, King's College London, London, UK.
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
authors.affiliation: Department of Dermatology, St. Vincent's University Hospital, Dublin, Ireland.
authors.forename: A
authors.initials: A
authors.lastname: Lally
mesh_terms: D000328:Adult; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype
chemical_list: D024143:Collagen Type VII