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

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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Bibliographic Details
Main Authors: Qian Ma, Lingyi Che, Yibing Chen, Zhuoyu Gu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Pediatrics
Subjects:
next-generation sequencing
dyschromatosis ymmetrica hereditaria
ADAR1
mutations
hyperpigmented and hypopigmented
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1161502/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1161502/full

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