Identification of five novel variants of ADAR1 in dyschromatosis symmetrica hereditaria by next-generation sequencing

BackgroundDyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant inherited pigmentary dermatosis characterized by a mixture of hyperpigmented and hypopigmented freckles on the dorsal aspect of the distal extremities. To date, pathogenic mutations causing DSH have been identified in...

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Main Authors: Qian Ma (Author), Lingyi Che (Author), Yibing Chen (Author), Zhuoyu Gu (Author)
Format: Book
Published: Frontiers Media S.A., 2023-07-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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