Pachyonychia congenita type 1 with skeletal abnormalities.
Van der Velden
Jaap J A J
JJ
Van Steensel
Maurice A M
MA
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