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Updated: Jul 11, 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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RAB1A的哈普隆缺陷复制2p14-p15微删除,并与神经元分化受损有关

Jonathan J Rios1, Yang Li2, Nandina Paria2

  • 1Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, TX 75219, USA; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Departments of Pediatrics University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Orthopaedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

American journal of human genetics
|November 4, 2023
PubMed
概括

在RAB1A的遗传突变导致神经认知障碍与运动和言语延迟. 这项研究揭示了RAB1AA.

关键词:
微切除微切除的方法神经元分化神经元的分化性残症是一种性残症.

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