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Updated: Jul 6, 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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一种综合征性神经发育障碍,是由PPFIA3罕见变异引起的

Maimuna S Paul1, Sydney L Michener1, Hongling Pan2

  • 1Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA.

American journal of human genetics
|January 5, 2024
PubMed
概括

在PPFIA3基因的罕见变异导致发育障碍和影响突触形成. 果模型显示,这些PPFIA3变体充当主导负功能丧失等位基因,影响发育和突触功能.

关键词:
门德尔的表型 门德尔的表型活动区蛋白质活性区蛋白质.果,果,果,果,果,果,果,果,果,果,果.神经发育障碍是一种神经发育障碍.突触性蛋白质是一种突触性蛋白质.

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