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Updated: May 26, 2025

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一种与智力障碍和相关的新型RHEB生殖系变异:扩大mTOR病变的范围

Juan Pablo Trujillo-Quintero1, Anna Brunet-Vega1, Nino Spataro1

  • 1Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain.

Clinical genetics
|February 24, 2025
PubMed
概括

这项研究确定了与全球发育迟缓和相关联的RHEB基因中一种新的生殖系变异. 这一发现扩大了对神经发育障碍中RHEB相关的mTORpathie的理解.

关键词:
雷伯 (RHEBEB) 是一个名字.是一种.在mTOROR中使用mTOR.在mTOR病变中.神经发育障碍是一种神经发育障碍.

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