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New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.

Juan-Juan XieWang NiQiao WeiHuan MaGe BaiYing ShenZhi-Ying Wu
Published in: CNS neuroscience & therapeutics (2019)
Our results have deepened the understanding of clinical, genetic, and imaging heterogeneity of hereditary leukodystrophies, and expanded the spectrum of pathogenic variants and clinical features.
Keyphrases
  • copy number
  • high resolution
  • genome wide
  • single cell
  • dna methylation