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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...

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Detalles Bibliográficos
Autores principales: Diociaiuti, Andrea, El Hachem, May, Pisaneschi, Elisa, Giancristoforo, Simona, Genovese, Silvia, Sirleto, Pietro, Boldrini, Renata, Angioni, Adriano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4712481/
https://www.ncbi.nlm.nih.gov/pubmed/26762237
http://dx.doi.org/10.1186/s13023-016-0384-4