title: Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.
authors.forename: Neil J
authors.initials: NJ
authors.lastname: Wilson
authors.forename: Mónica L Cárdenas
authors.initials: ML
authors.lastname: Pérez
authors.forename: Anders
authors.initials: A
authors.lastname: Vahlquist
authors.forename: Mary E
authors.initials: ME
authors.lastname: Schwartz
authors.forename: C David
authors.initials: CD
authors.lastname: Hansen
authors.forename: W H Irwin
authors.initials: WH
authors.lastname: McLean
authors.forename: Frances J D
authors.initials: FJ
authors.lastname: Smith
mesh_terms: D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D053537:Keratin-17 / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D053549:Pachyonychia Congenita / Q000235:genetics*
chemical_list: D053537:Keratin-17