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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| Principais autores: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2023-09-01
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| coleção: | Annals of Clinical and Translational Neurology |
| Acesso em linha: | https://doi.org/10.1002/acn3.51848 |
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