Keratin 17 mutations in four families from India with pachyonychia congenita

• Autors principals: Manoj Agarwala (Autor), Pankaj Salphale (Autor), Dincy Peter (Autor), Neil J Wilson (Autor), Susanne Pulimood (Autor), Mary E Schwartz (Autor), Frances J D Smith (Autor)
• Format: Llibre
• Publicat: Wolters Kluwer Medknow Publications, 2017-01-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkerat...