论文信息 - Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A–I editing efficiency of ADAR1 mutants and phenotype expression

Bilateral striatal necrosis and dyschromatosis symmetrica hereditaria: A–I editing efficiency of ADAR1 mutants and phenotype expression

ADAR1 mutations cause an autosomal dominant pigmentary disorder, dyschromatosis symmetrica hereditaria (DSH), and bilateral striatal necrosis (BSN) affecting the central nervous system (CNS). Here we report gene analysis of an Indian girl with dyschromatosis and dystonia and diagnose her as having DSH with BSN. No cases of DSH with BSN harboring ADAR1 bi-allelic mutations have been reported previously. This article is protected by copyright. All rights reserved.

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