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Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies
PURPOSE: TUBA1A and TUBB2B tubulinopathies are rare neurodevelopmental disorders characterized by cortical and extracortical malformations and heterogenic phenotypes. There is a need for quantitative clinical endpoints that will be beneficial for future diagnostic and therapeutic trials. METHODS: Qu...
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| Published in: | Genet Med |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Nature Publishing Group US
2020
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7935713/ https://ncbi.nlm.nih.gov/pubmed/33082561 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01001-z |
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