Dyschromatosis symmetrica hereditaria with chilblains due to a novel two‐amino‐acid deletion in the double‐stranded RNA‐binding domain of ADAR1

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disease caused by a heterozygous mutation of ADAR1.1 DSH is characterized by a mixture of hyper- and hypo-pigmented small macules in the extremities. Among the mutations, the pathogenicity of in-frame deletion in regions other than the deaminase domain has not been clarified in DSH.2 This article is protected by copyright. All rights reserved.

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