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Updated: Jul 17, 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CUX1相关的神经发育障碍:深入了解表型-基因型谱和潜在病理

Henry Oppermann1, Elia Marcos-Grañeda2, Linnea A Weiss2

  • 1Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Henry.oppermann@medizin.uni-leipzig.de.

European journal of human genetics : EJHG
|August 29, 2023
PubMed
概括

CUX1基因中的致病变异会导致发育迟缓和智力障碍. 在某些情况下,随着年龄的增长,症状会改善,这表明CUX1表达平衡的作用.

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