Identification of novel mutation in cathepsin C gene causing Papillon-Lefèvre Syndrome in Mexican patients

BACKGROUND: Papillon-Lefèvre Syndrome (PLS) is a type IV genodermatosis caused by mutations in cathepsin C (CTSC), with a worldwide prevalence of 1–4 cases per million in the general population. In México, the prevalence of this syndrome is unknown, and there are few case reports. The diagnosis of t...

Descripción completa

Detalles Bibliográficos
Autores principales: Romero-Quintana, José G, Frías-Castro, Luis O, Arámbula-Meraz, Eliakym, Aguilar-Medina, Maribel, Dueñas-Arias, Jesús E, Melchor-Soto, Jesús D, Romero-Navarro, José G, Ramos-Payán, Rosalío
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563609/
https://www.ncbi.nlm.nih.gov/pubmed/23311634
http://dx.doi.org/10.1186/1471-2350-14-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563609/
https://www.ncbi.nlm.nih.gov/pubmed/23311634
http://dx.doi.org/10.1186/1471-2350-14-7

Ejemplares similares