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Updated: Jul 12, 2025

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由于一种新的RELN突变,带有脑小脑低质化的lissencephaly

Liliana Igreja1, Catarina Menezes2, Pedro S Pinto1

  • 1Department of Neuroradiology, Centro Hospitalar Universitário do Porto, Porto, Portugal.

Pediatric neurology
|October 25, 2023
PubMed
概括

这项研究在患有带小脑低成形 (LCH) 的小脑脑病患者中发现了一种新的RELN基因变异. 这一发现促进了对LCH遗传原因的理解.

关键词:
案例报告案例报告小脑细胞低成形皮层形是因为皮层形.脑性脑衰竭 (Lissencephaly) 是一种脑衰竭.在RELN基因中,RELN基因被发现.

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Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
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