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Updated: Jul 18, 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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在PTEN的变体与多种多样的皮层发育不良相关

Emily Shelkowitz1, Nicholas V Stence2, Ilana Neuberger2

  • 1Department of Pediatrics, University of Washington, Seattle, Washington.

Pediatric neurology
|August 24, 2023
PubMed
概括

PTEN突变会导致大脑和大脑形. 虽然神经发育问题很常见,但结果可能是有利的,建议对这些情况进行PTEN测试.

关键词:
大脑形是因为大脑有形.皮层发育不良的皮层发育不良巨大脑症是一个巨大脑症.在 PHTS PHTS 中.在这里,我们可以看到PTEN.多种微型性症 (Polymicrogyria) 是一种

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