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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...

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書誌詳細
主要な著者: Occella, Corrado, Bleidl, Dario, Nozza, Paolo, Mascelli, Samantha, Raso, Alessandro, Gimelli, Giorgio, Gimelli, Stefania, Elisa Tassano
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2013
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3622678/
https://ncbi.nlm.nih.gov/pubmed/23593459
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0061311
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