病例报告:TUBA1A-管病变中的结构性大脑异常:叙述性综述
Piero Pavone1,2, Pasquale Striano3,4, Giovanni Cacciaguerra1
1Section of Pediatrics and Child Neuropsychiatry, Department of Child and Experimental Medicine, University of Catania, Catania, Italy.
Frontiers in pediatrics
|September 25, 2023
概括
影响大脑发育的遗传性疾病TUBA1A-tubulinopathy会导致严重的神经问题. 对于患有脑形的人来说,早期查TUBA1A变体至关重要.
科学领域:
- 神经遗传学 神经遗传学
- 发育神经科学的发展神经科学.
- 分子医学是分子医学.
背景情况:
- 图布林基因与严重的神经疾病有关,TUBA1A是最常见的相关基因.
- 肺结核病症包括一系列与素基因突变相关的疾病,影响大脑发育.
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