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Updated: Feb 26, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在IQSEC1中,在患有智力发育障碍,身材矮小和行为异常 (IDDSSBA) 和体发育失调的患者中,出现了新的双边变异

A A Kashevarova1, L I Minaycheva1, E A Fonova1,2

  • 1Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.

American journal of medical genetics. Part A
|February 25, 2026
PubMed
概括

具有矮身和行为异常的智力发育障碍 (IDDSSBA) 与IQSEC1基因变异有关. 这项研究发现了新的变异和大脑异常,建议对受影响的个体进行MRI查.

关键词:
在IQSEC1中,IQSEC1是最重要的.IDDSSBABA 的意思是身体质体的发育不良.

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