Search results for " Harlequin"

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Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.

2022

Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. Cases presentation We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin…

MutationSerine EndopeptidasesInfant NewbornHigh-Throughput Nucleotide SequencingHumansATP-Binding Cassette TransportersAlopeciaGeneral MedicineKeratin-1Congenital ichthyosis Target NGS Harlequin ichtyosis Epidermolytic ichtyosis Autosomal recessive ichtyosis with hypotrichosis Case reportIchthyosis LamellarItalian journal of pediatrics
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Dramatizing Goldoni's Harlequin in China

2014

Through an analysis of some of the elements of the development of the Chinese theatre, the paper underlines the characteristics of the influence of the Italian theatre in China focusing on the character of Harlequin. Attraverso una disamina di alcuni elementi dello sviluppo teatrale in Cina, il contributo mette in luce le caratteristiche dell'influenza del teatro italiano in Cina ruotando intorno alla figura di Arlecchino.

Teatro ArlecchinoTheatre HarlequinSettore L-OR/21 - Lingue E Letterature Della Cina E Dell'Asia Sud-Orientale
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