The molecular genetic analysis of the expanding pachyonychia congenita case collection

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:...

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Detalles Bibliográficos
Autores principales: Wilson, NJ, O'Toole, EA, Milstone, LM, Hansen, CD, Shepherd, AA, Al-Asadi, E, Schwartz, ME, McLean, WHI, Sprecher, E, Smith, FJD
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282083/
https://www.ncbi.nlm.nih.gov/pubmed/24611874
http://dx.doi.org/10.1111/bjd.12958

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