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Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli
Porokeratosis is a rare disease of epidermal keratinization characterized by the histopathological feature of the cornoid lamella, a column of tightly fitted parakeratocytic cells, whose etiology is still unclear. Porokeratosis of Mibelli is a subtype of porokeratosis presenting a single plaque or a...
Autores principales: | Occella, Corrado, Bleidl, Dario, Nozza, Paolo, Mascelli, Samantha, Raso, Alessandro, Gimelli, Giorgio, Gimelli, Stefania, Elisa Tassano |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3622678/ https://www.ncbi.nlm.nih.gov/pubmed/23593459 http://dx.doi.org/10.1371/journal.pone.0061311 |
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