Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review
Tubulin plays an essential role in cortical development, and TUBA1A encodes a major neuronal α-tubulin. Neonatal mutations in TUBA1A are associated with severe brain malformations, and approximately 70% of patients with reported cases of TUBA1A mutations exhibit lissencephaly. We report the case of...
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| Main Authors: | , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2024-05-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |