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Updated: Jun 28, 2025

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双性功能丧失的ZFTRAF1变体会导致神经发育障碍,包括小头症和低血压症

Maria Asif1, Arwa Ishaq A Khayyat2, Salem Alawbathani3

  • 1Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.

Genetics in medicine : official journal of the American College of Medical Genetics
|April 20, 2024
PubMed
概括

在ZFTRAF1中双变异会导致严重的神经发育障碍. 这项研究在受影响个体中确定了ZFTRAF1变异,揭示了mRNA处理和自的细胞缺陷.

关键词:
自自是一种自的过程.在CYHR1中,神经发育障碍 神经发育障碍在 ZFTRAF1 中.在mRNA处理过程中.

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