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: Sijing Ren (Author), Yu Kong (Author), Ruihan Liu (Author), Qiubo Li (Author), Xuehua Shen (Author), Qing-Xia Kong (Author)
Format: Knjiga
Izdano: Frontiers Media S.A., 2024-05-01T00:00:00Z.
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