Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations
Abstract 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 previous...
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| Format: | Book |
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BMC,
2019-05-01T00:00:00Z.
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