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Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child with Static Hypomyelinating Leukodystrophy
BACKGROUND: Leukodystrophies are a large group of inherited diseases of CNS myelin. There are few treatments, and a majority of patients do not receive a final genetic diagnosis. PATIENT: We report a novel presentation of a female child with hypotonia, global developmental delay, and rotatory nystag...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
2014
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4029864/ https://ncbi.nlm.nih.gov/pubmed/24742798 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2014.01.051 |
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