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The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication: A multiyear case series
This study aimed to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus–Merzbacher disease (PMD) associated with PLP1 gene duplications. The study examined 16 PMD Patients ranging in age from 7 to 48 years, who had a documented PLP1 gene duplication. Th...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10457477/ https://www.ncbi.nlm.nih.gov/pubmed/37636890 http://dx.doi.org/10.1002/ccr3.7814 |