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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Format: | Book |
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Frontiers Media S.A.,
2023-07-01T00:00:00Z.
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A1234.567 |
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