title: Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2.
authors.affiliation: Department of Dermatology, Our Lady of Lourdes Hospital, Drogheda, Ireland. caroloh@bigpond.net.au
authors.forename: Carol
authors.initials: C
authors.lastname: Oh Adib
authors.forename: Brad
authors.initials: B
authors.lastname: Jones
authors.forename: Haihui
authors.initials: H
authors.lastname: Liao
authors.forename: Frances J D
authors.initials: FJ
authors.lastname: Smith
authors.forename: Rustum
authors.initials: R
authors.lastname: Solomon
authors.forename: Conleth A
authors.initials: CA
authors.lastname: Egan
authors.forename: Sancy
authors.initials: S
authors.lastname: Leachman
mesh_terms: D000328:Adult; D000367:Age Factors; D003937:Diagnosis, Differential; D004814:Epidermal Cyst / Q000235:genetics; D005260:Female; D006801:Humans; D053537:Keratin-17 / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009264:Nails, Malformed / Q000235:genetics; D053549:Pachyonychia Congenita / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree
chemical_list: D053537:Keratin-17