A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.14332
Abstract: Dyschromatosis symmetrica hereditaria (DSH), which characterized by hyper- or hypopigmented macules on the dorsal aspect of distal extremities and freckle-like macules on the face, is a rare pigmented genodermatosis that usually restricted to the skin.… read more here.
Keywords: dyschromatosis symmetrica; adar1 gene; frameshift mutation; novel frameshift ... See more keywords
Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Dermatology"
DOI: 10.4103/ijd.ijd_207_21
Abstract: Background: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder. Aims: This study aimed to identify the mutations of the ADAR1… read more here.
Keywords: mutations adar1; two chinese; chinese families; mutation ... See more keywords