Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

BACKGROUND: The term ichthyosis describes a generalized disorder of cornification characterized by scaling and/or hyperkeratosis of different skin regions. Mutations in a broad group of genes related to keratinocyte differentiation and epidermal barrier function have been demonstrated to play a caus...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Main Authors: Diociaiuti, Andrea, El Hachem, May, Pisaneschi, Elisa, Giancristoforo, Simona, Genovese, Silvia, Sirleto, Pietro, Boldrini, Renata, Angioni, Adriano
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
Assuntos:
Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4712481/
https://ncbi.nlm.nih.gov/pubmed/26762237
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0384-4
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares