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Updated: Jun 1, 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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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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与PURA相关的神经发育障碍:对基因型-表型相关性进行系统审查

Noritaka Taniguchi1, Keisuke Watanuki1, Daisuke Nakato2

  • 1Department of Pediatrics, NHO Beppu Medical Center, Beppu, Oita, Japan.

Journal of medical genetics
|January 17, 2025
PubMed
概括

澄清了与PURA相关的神经发育障碍 (PURA-NDDs) 的基因型-表型相关性. 临床严重程度与删除/改变大小有关,而不是变异位置,影响呼吸问题和语言缺陷等结果.

关键词:
染色体异常是什么?染色体异常是什么异构体序列化 异构体序列化遗传关联研究 遗传关联研究

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