title: A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a.
authors.affiliation: Department of Dermatology, Hospital Universitario de la Princesa, Diego de León 62, 28006 Madrid, Spain.
authors.forename: I
authors.initials: I
authors.lastname: García-Rio
authors.forename: P F
authors.initials: PF
authors.lastname: Peñas
authors.forename: A
authors.initials: A
authors.lastname: García-Díez
authors.forename: W H I
authors.initials: WH
authors.lastname: McLean
authors.forename: F J D
authors.initials: FJ
authors.lastname: Smith
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D007642:Keratosis / Q000235:genetics; D009059:Mouth Diseases / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D009264:Nails, Malformed / Q000235:genetics; D011392:Proline / Q000235:genetics*; D013577:Syndrome
chemical_list: D007633:Keratins; D011392:Proline