Browsing Academic by Author "de Oliveira, Ana Sofia Lima Estevao"
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A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa
de Oliveira, Ana Sofia Lima Estevao; de Siqueira, Roberta Cardoso; Nait-Meddour, Cécile; Tricarico, Paola Maura; Moura, Ronald; Agrelli, Almerinda; d'Adamo, Adamo Pio; Jamain, Stéphane; Crovella, Sergio; de Fátima Medeiros Brito, Maria; Boniotto, Michele; Brandão, Lucas André Cavalcanti... more authors ... less authors ( Wiley , 2023 , Article)Dowling Degos disease (DDD) is a rare autosomal dominant genodermatosis characterized by acquired, slowly progressive reticulated pigmented lesions primarily involving flexural skin areas. Mutations in KRT5, POGLUT-1 and ...