Cargando…
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...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2013
|
| Materias: | |
| 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 |