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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Indian J Dermatol
Main Authors: Agarwala, Manoj, Salphale, Pankaj, Peter, Dincy, Wilson, Neil J, Pulimood, Susanne, Schwartz, Mary E, Smith, Frances J D
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications & Media Pvt Ltd 2017
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5527726/
https://ncbi.nlm.nih.gov/pubmed/28794556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijd.IJD_321_16
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki