Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

Published 2018 View Full Article

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Title
Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene
Authors
Keywords
Aicardi-Goutières syndrome, ADAR, gene, Type 1 interferonopathy, Infantile encephalopathy
Journal
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume 22, Issue 1, Pages 186-189
Publisher
Elsevier BV
Online
2017-11-23
DOI
10.1016/j.ejpn.2017.11.003

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