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...
Bewaard in:
| Hoofdauteurs: | , , , , , , , , , , |
|---|---|
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wiley
2023-09-01
|
| Reeks: | Annals of Clinical and Translational Neurology |
| Online toegang: | https://doi.org/10.1002/acn3.51848 |
| Tags: |
Geen labels, Wees de eerste die dit record labelt!
|