تصفح Laboratory Animal Research Center (Research) حسب الموضوع "genetic mutation"
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A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa
( 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 ...