title: Pachyonychia congenita type 1 with skeletal abnormalities.
authors.forename: Jaap J A J
authors.initials: JJ
authors.lastname: Van der Velden
authors.forename: Maurice A M
authors.initials: MA
authors.lastname: Van Steensel
mesh_terms: D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000000981:diagnostic imaging*; D004252:DNA Mutational Analysis; D005533:Foot Dermatoses / Q000151:congenital / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D009260:Nail Diseases / Q000151:congenital / Q000175:diagnosis; D009264:Nails, Malformed / Q000151:congenital / Q000175:diagnosis; D053549:Pachyonychia Congenita / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D011859:Radiography