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Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations
BACKGROUND: Tubulinopathies result from mutations in tubulin genes, including TUBG1, responsible for cell microtubules, are characterized by brain development abnormalities, microcephaly, early-onset epilepsy, and motor impairment. Only eleven patients with TUBG1 mutations have been previously descr...
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| Udgivet i: | BMC Med Genet |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BioMed Central
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6545025/ https://ncbi.nlm.nih.gov/pubmed/31151415 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0827-6 |
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