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Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease
CASE PRESENTATION: Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes childhood chronic spastic encephalopathy. Its genetic etiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the PLP1 locus. Clinically, it...
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| Publicado en: | Colomb Med (Cali) |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Universidad del Valle
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6084915/ https://ncbi.nlm.nih.gov/pubmed/30104812 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.25100/cm.v49i2.2522 |
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