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Updated: Jan 9, 2026

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在患有和全球发育迟缓的患者中发现了一种新型的框架转移CUX2变体:表型和基因型扩张

Ferruccio Romano1, Mohammad Sadegh Shams Nosrati2, Francesca Madia3

  • 1Genomic and Clinical Genetics Unit, IRCSS Istituto G. Gaslini, Genoa, Italy.

European journal of medical genetics
|December 4, 2025
PubMed
概括

在一个患有DEE67.7特征的患者身上发现了CUX2基因的新型框架转移变异. 这一发现扩大了CUX2相关疾病的已知遗传原因,并表明了作为一种致病机制的哈普隆缺陷.

关键词:
在 CUX2 的位置上.发育延迟的发展延迟.是一种.框架转移变体的变体病变的发生和发病.现型扩张 现型扩张

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