Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2

Abstract Objectives Hereditary spastic paraplegia (HSP) is a genetically heterogeneous disease caused by over 70 genes, with a significant number of patients still genetically unsolved. In this study, we recruited a suspected HSP family characterized by spasticity, developmental delay, ataxia and hy...

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Bibliographic Details
Main Authors: Xun Zhou, Yige Wang, Runcheng He, Zhenhua Liu, Qian Xu, Jifeng Guo, Xinxiang Yan, Jinchen Li, Beisha Tang, Sheng Zeng, Qiying Sun
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51848