New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.
Juan-Juan XieWang NiQiao WeiHuan MaGe BaiYing ShenZhi-Ying WuPublished 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.