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Updated: Jun 12, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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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新型KIF26A变种与儿科肠道伪阻塞 (PIPO) 和大脑发育缺陷有关

Mohammad Sadegh Shams Nosrati1,2, Alireza Doustmohammadi3, Mariasavina Severino4

  • 1Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

Clinical genetics
|September 21, 2024
PubMed
概括

新发现的KIF26A基因变异会导致先天性水头症,神经发育问题和儿童的肠道阻塞. 这扩大了已知的KIF26A相关疾病的范围,为罕见的儿科疾病提供了洞察力.

关键词:
KIF26A 如果是26A大脑形 脑部形这是一种先天性大结肠.外基因组测序是指外基因组的测序.在中国,中国就是中国.神经发育障碍是一种神经发育障碍.

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