title: Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene.
authors.affiliation: Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
authors.forename: F
authors.initials: F
authors.lastname: Cammarata-Scalisi
authors.affiliation: Department of Dermatology, School of Medicine, Hokkaido University, Sapporo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Natsuga
authors.affiliation: Department of Dermatology, School of Medicine, Hokkaido University, Sapporo, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Toyonaga
authors.affiliation: Department of Dermatology, School of Medicine, Hokkaido University, Sapporo, Japan.
authors.forename: W
authors.initials: W
authors.lastname: Nishie
authors.affiliation: Department of Dermatology, School of Medicine, Hokkaido University, Sapporo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Shimizu
authors.affiliation: Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
authors.forename: A
authors.initials: A
authors.lastname: Avendaño
authors.affiliation: Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
authors.forename: D
authors.initials: D
authors.lastname: Araque
authors.affiliation: Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
authors.forename: G
authors.initials: G
authors.lastname: Da Silva
authors.affiliation: Bambino Gesù Children's Hospital IRCCS, Research Laboratory, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Bellacchio
authors.affiliation: Department of Dentistry, Bambino Gesù Children's Hospital - IRCCS, Viale S. Paolo 15, 00147 Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Callea
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D053553:Keratin-6 / Q000235:genetics*; D008297:Male; D009154:Mutation; D053549:Pachyonychia Congenita / Q000235:genetics*; D010375:Pedigree
chemical_list: C507569:KRT6A protein, human; D053553:Keratin-6