Heterozygous frameshift mutation in keratin 5 in a family with Galli–Galli disease

BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical features, therefore analysis at the molecular level...

Descripción completa

Detalles Bibliográficos
Autores principales: Reisenauer, AK, Wordingham, SV, York, J, Kokkonen, EWJ, Mclean, WHI, Wilson, NJ, Smith, FJD
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150463/
https://www.ncbi.nlm.nih.gov/pubmed/24372084
http://dx.doi.org/10.1111/bjd.12813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150463/
https://www.ncbi.nlm.nih.gov/pubmed/24372084
http://dx.doi.org/10.1111/bjd.12813

Ejemplares similares