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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Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Diociaiuti, Andrea, El Hachem, May, Pisaneschi, Elisa, Giancristoforo, Simona, Genovese, Silvia, Sirleto, Pietro, Boldrini, Renata, Angioni, Adriano
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2016
Sujets:
Research
Accès en ligne: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
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