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Updated: Jun 29, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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新型双基ZNF335变异导致初级小头症:一个病例报告和放射学审查

Dhrumil Deveshkumar Patel1, Karen W Gripp2, Erin Wadman2

  • 1Department of Radiology, Nemours Children's Health, Wilmington, Delaware, USA.

American journal of medical genetics. Part A
|March 29, 2024
PubMed
概括

通过影响神经发育,ZNF335中的遗传变异会导致小头症. 这项研究确定了一种与尼泊尔患者初级小头症和脑部异常相关的新型ZNF335变异.

关键词:
在 ZNF 335 中,微头症是一个微头症.

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Neurulation01:30

Neurulation

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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