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Exome Sequencing Identifies DYNC1H1 Variant Associated with Vertebral Abnormality and SMA-LED
BACKGROUND: Molecular diagnosis of the distal spinal muscular atrophies or distal hereditary motor neuropathies remains challenging due to clinical and genetic heterogeneity. Next generation sequencing offers potential for identifying de novo mutations of causative genes in isolated cases. PATIENT:...
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| Publicado en: | Pediatr Neurol |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2014
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4351714/ https://ncbi.nlm.nih.gov/pubmed/25484024 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2014.09.003 |
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