Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkerat...

Descripción completa

Detalles Bibliográficos
Autores principales: Agarwala, Manoj, Salphale, Pankaj, Peter, Dincy, Wilson, Neil J, Pulimood, Susanne, Schwartz, Mary E, Smith, Frances J D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527726/
https://www.ncbi.nlm.nih.gov/pubmed/28794556
http://dx.doi.org/10.4103/ijd.IJD_321_16

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527726/
https://www.ncbi.nlm.nih.gov/pubmed/28794556
http://dx.doi.org/10.4103/ijd.IJD_321_16

Ejemplares similares