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:...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Br J Dermatol
Main Authors: Wilson, NJ, O'Toole, EA, Milstone, LM, Hansen, CD, Shepherd, AA, Al-Asadi, E, Schwartz, ME, McLean, WHI, Sprecher, E, Smith, FJD
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4282083/
https://ncbi.nlm.nih.gov/pubmed/24611874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bjd.12958
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados