Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria

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 gene in two Chinese families with DSH. Methods and Materials: Eight pa...

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Autores principales: Xiaoying Ning (Autor), Shengxiang Xiao (Autor), Yanfei Zhang (Autor)
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Publicado: Wolters Kluwer Medknow Publications, 2022-01-01T00:00:00Z.
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