A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only four muta...

Descripción completa

Detalles Bibliográficos
Autores principales: Gutierrez, Jeydith A, Hannoush, Zeina C, Vargas, Luis G, Momany, Allison, Garcia, Carmen C, Murray, Jeffrey C, Dunnwald, Martine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744379/
https://www.ncbi.nlm.nih.gov/pubmed/23957016
http://dx.doi.org/10.1002/mgg3.6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3744379/
https://www.ncbi.nlm.nih.gov/pubmed/23957016
http://dx.doi.org/10.1002/mgg3.6

Ejemplares similares