Article
The molecular genetic analysis of the expanding pachyonychia congenita case collection.
The British journal of dermatology - 1 Aug 2014
Wilson N J, O'Toole E A, Milstone L M, Hansen C D, Shepherd A A, Al-Asadi E, Schwartz M E, McLean W H I, Sprecher E, Smith F J D
Abstract excerpt
BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant keratinizing disorder characterized by severe, painful, palmoplantar keratoderma and nail dystrophy, often accompanied by oral leucokeratosis, cysts and follicular keratosis. It is caused by mutations in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16 or KRT17. OBJECTIVES: To identify mutations in 84 new families with a clinical diagnosis...
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