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Updated: Jan 7, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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在ERCC6基因中的一个切断变异具有三个不同的表型:修饰基因的显著影响

Mehdi Khorrami1, Erfan Khorram2,3, Mohammad Amin Tabatabaiefar1

  • 1Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, mui.ac.ir.

Genetics research
|December 29, 2025
PubMed
概括

这项研究确定了与ERCC6基因变异相关的可凯恩综合征 (CS) 和脑面骨综合征 (COFS) 的新型中间表现. 研究结果表明,CS和COFS是连续的表型谱的一部分.

关键词:
卡卡恩综合征是什么意思在ERCC6中,ERCC6是ERCC6的成员之一.脑面骨综合征 (COFS) 是一种疾病.中间类型的现象型.修改基因是基因的修改者.

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