Ontology highlight
ABSTRACT:
SUBMITTER: Wilson NJ
PROVIDER: S-EPMC4282083 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Wilson N J NJ O'Toole E A EA Milstone L M LM Hansen C D CD Shepherd A A AA Al-Asadi E E Schwartz M E ME McLean W H I WH Sprecher E E Smith F J D FJ
The British journal of dermatology 20140806 2
<h4>Background</h4>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.<h4>Objectives</h4>To identify mutations in 84 new families with a clinical diagnosis of PC, recruited by the International Pachyonychia Congenita Research R ...[more]