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Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2

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 hypomyelin...

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Detalles Bibliográficos
Autores principales:	Zhou, Xun, Wang, Yige, He, Runcheng, Liu, Zhenhua, Xu, Qian, Guo, Jifeng, Yan, Xinxiang, Li, Jinchen, Tang, Beisha, Zeng, Sheng, Sun, Qiying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502680/ https://www.ncbi.nlm.nih.gov/pubmed/37475517 http://dx.doi.org/10.1002/acn3.51848

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