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...
Gorde:
| Egile Nagusiak: | , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Frontiers Media S.A.
2024-05-01
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| Saila: | Frontiers in Pediatrics |
| Gaiak: | |
| Sarrera elektronikoa: | https://www.frontiersin.org/articles/10.3389/fped.2024.1367305/full |
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