Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Pachyonychia Congenita: New Classification and Diagnosis
por: Agarwala, Manoj Kumar, et al.
Publicado: (2016) -
Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
por: Duverger, Olivier, et al.
Publicado: (2018) -
Correction: Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
por: Duverger, Olivier, et al.
Publicado: (2019) -
Pachyonychia Congenita-Associated Alopecia
por: Nikoo, Azita
Publicado: (2012) -
Pachyonychia Congenita in a Toddler
por: Mandelbaum, Max, et al.
Publicado: (2017)